Q9H257
EV
Gene name |
CARD9 |
Protein name |
Caspase recruitment domain-containing protein 9 |
Names |
hCARD9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64170 |
EC number |
|
Protein Class |
|
Descriptions
CARD9 is a protein that plays a crucial role in immune cell activation. It contains a caspase recruitment domain (CARD) and a coiled-coil domain, which are involved in its autoinhibited state prior to stimulation. The autoinhibited state is maintained by an extensive interface between the CARD and coiled-coil domain, preventing constitutive activation. CARD9 is activated through post-translational modifications like phosphorylation or ubiquitination, which disrupt the autoinhibitory interface, allowing CARD9 to recruit downstream binding partners and propagate immune signaling.
Autoinhibitory domains (AIDs)
Target domain |
1-97 (CARD domain) |
Relief mechanism |
PTM |
Assay |
Structural analysis, Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
731 variants for Q9H257
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs775128842 RCV001035607 |
4 | Y>H | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs371061371 COSM357786 RCV001326189 |
5 | E>K | lung Variant assessed as Somatic; MODERATE impact. Predisposition to invasive fungal disease due to CARD9 deficiency [Cosmic, NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs374091388 RCV000311218 CA5333270 |
7 | D>N | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs369865691 RCV000824334 |
9 | E>K | Variant assessed as Somatic; MODERATE impact. Predisposition to invasive fungal disease due to CARD9 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000454561 VAR_048607 RCV000408113 rs4077515 CA5333266 |
12 | S>N | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs377431254 RCV001987528 |
13 | V>I | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1833288953 RCV001059439 |
17 | F>S | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
VAR_084630 rs1159160299 |
18 | R>W | IMD103; reduced cytokine production in response to C.albicans infection; impaired NF-kappa-B transcriptional activity [UniProt] | Yes |
gnomAD UniProt |
|
rs763713013 RCV001350890 |
20 | T>M | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs775267971 RCV002271345 |
23 | S>* | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs775267971 RCV000644001 COSM243482 CA5333258 COSM4816282 |
23 | S>L | Variant assessed as Somatic; MODERATE impact. prostate breast Predisposition to invasive fungal disease due to CARD9 deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_084631 | 23 | S>del | IMD103; reduced cytokine production in response to C.albicans infection; impaired NF-kappa-B transcriptional activity [UniProt] | Yes | UniProt |
|
RCV002008931 rs139436668 |
25 | I>M | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003317454 RCV001216268 rs201587695 |
29 | R>H | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1454037218 VAR_084632 |
35 | R>Q | IMD103; abolished homooligomerization and formation of BCL10-nucleating filaments; reduced cytokine production in response to C.albicans infection; reduced production IgG antibodies in response to C.albicans infection [UniProt] | Yes |
UniProt TOPMed dbSNP gnomAD |
|
RCV002025599 rs377708969 |
53 | N>S | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs940550122 VAR_084633 RCV001064701 |
57 | R>H | Predisposition to invasive fungal disease due to CARD9 deficiency IMD103; reduced cytokine production in response to C.albicans infection [ClinVar, UniProt] | Yes |
ClinVar UniProt TOPMed dbSNP |
|
rs768308018 RCV002271343 |
65 | L>missing | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376793464 RCV001352219 |
70 | R>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_084634 rs767522068 |
70 | R>W | IMD103; reduced cytokine production in response to C.albicans infection; impaired NF-kappa-B transcriptional activity; reduced production IgG antibodies in response to C.albicans infection [UniProt] | Yes |
UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000700097 rs398122362 |
72 | G>C | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000074438 CA145368 rs398122362 VAR_070828 |
72 | G>S | Predisposition to invasive fungal disease due to CARD9 deficiency IMD103 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000807082 rs1437385436 |
75 | G>S | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001299098 rs1049019466 |
86 | Y>C | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000788931 RCV001067651 VAR_084635 rs921151054 |
91 | Y>H | Predisposition to invasive fungal disease due to CARD9 deficiency IMD103; does not affect formation of the CBM complex but impairs formation of a complex with RASGRF1 [ClinVar, UniProt] | Yes |
ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001338491 rs1488546054 |
99 | P>T | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
CA145375 VAR_070829 rs398122364 RCV000074441 |
101 | R>C | Predisposition to invasive fungal disease due to CARD9 deficiency IMD103 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
| VAR_084636 | 101 | R>L | IMD103 [UniProt] | Yes | UniProt |
|
RCV001035608 rs374308759 |
105 | M>V | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs760681802 RCV000701249 |
109 | A>V | Variant assessed as Somatic; MODERATE impact. Predisposition to invasive fungal disease due to CARD9 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs371695061 RCV001360838 |
111 | G>E | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001222034 rs780846137 |
123 | V>I | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs926038111 RCV001220036 |
124 | M>I | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1274878660 RCV001218958 |
124 | M>T | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2131444353 RCV001863722 |
124 | M>V | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2131444271 RCV001370805 |
138 | S>R | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001904105 rs375341696 |
141 | D>N | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002035954 rs977007616 |
144 | I>F | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001221746 rs1407588129 |
146 | E>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000823901 rs757627986 |
148 | R>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001910889 RCV002553593 rs149206311 |
148 | R>W | Inborn genetic diseases Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs539919395 RCV000809823 |
152 | S>N | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA5333129 RCV000545325 rs199947855 |
155 | R>C | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs145198648 RCV001952047 |
155 | R>H | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002271344 rs1342330215 |
158 | Q>* | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
| VAR_084637 | 158 | Q>del | IMD103; decreased production of cytokines in CD4(+) Th17 cells [UniProt] | Yes | UniProt |
|
RCV001229377 rs1400756254 |
160 | R>C | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000800304 RCV002534635 rs747925378 |
160 | R>H | Variant assessed as Somatic; MODERATE impact. Predisposition to invasive fungal disease due to CARD9 deficiency Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs112244317 CA5333117 RCV000644011 |
170 | A>T | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs140508365 CA5333114 RCV000820949 |
171 | G>S | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001169218 rs201802044 |
172 | S>N | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs759264924 RCV001210897 |
173 | R>C | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs932662849 RCV001366654 |
178 | C>R | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1252059533 RCV001324374 |
180 | E>G | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs747120908 RCV001169217 |
183 | Y>C | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000701826 rs374298700 |
184 | D>N | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001896342 rs2131443970 |
187 | M>I | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000818624 rs1302956100 |
187 | M>T | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs749914021 RCV001064230 |
192 | Q>R | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001231536 rs144115318 |
193 | S>N | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
rs2131443924 RCV001962015 |
194 | E>* | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761369989 RCV000823522 |
194 | E>D | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774113192 RCV001306554 |
195 | E>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs768281299 RCV001344243 VAR_084638 |
196 | K>E | Predisposition to invasive fungal disease due to CARD9 deficiency IMD103; reduced cytokine production in response to C.albicans infection; does not affect NF-kappa-B transcriptional activity [ClinVar, UniProt] | Yes |
ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002563219 RCV001232252 rs139295959 |
198 | A>T | Inborn genetic diseases Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001215538 rs1833249736 |
201 | M>T | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs756583189 RCV001923339 |
204 | R>C | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001027549 rs1379376784 |
213 | L>missing | Inherited Immunodeficiency Diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200735402 RCV001168483 |
221 | E>K | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs745942827 COSM6115389 COSM6115390 COSM608085 RCV001234255 |
223 | D>N | lung Variant assessed as Somatic; MODERATE impact. Predisposition to invasive fungal disease due to CARD9 deficiency [Cosmic, NCI-TCGA, ClinVar] | Yes |
cosmic curated NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000688329 rs551482416 |
228 | R>H | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001870193 rs1833242172 |
229 | K>N | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2131443372 RCV001909343 |
239 | E>K | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001347946 rs369657798 |
241 | R>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001058174 rs142221470 |
241 | R>W | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002049226 rs1833240828 |
246 | L>V | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs773804555 RCV001966274 |
249 | E>K | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000703638 rs748703154 |
253 | E>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001068429 rs1833240171 |
254 | K>A | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001037926 rs1833240016 |
256 | L>missing | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781016718 RCV000796096 |
260 | R>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001071694 rs148681933 |
260 | R>W | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1320544361 RCV002047495 |
261 | V>M | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs114895119 CA5332961 RCV000548526 RCV003430963 |
270 | E>V | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs753050033 RCV002271346 |
274 | D>missing | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1433023025 RCV002036131 |
274 | D>E | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001207295 rs1833234296 |
283 | L>V | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000644000 RCV002533265 rs138048592 CA5332955 |
284 | E>A | Predisposition to invasive fungal disease due to CARD9 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs776265820 RCV000799975 |
287 | W>C | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001242861 rs770668488 |
288 | R>W | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV000074440 rs398122363 CA145372 |
289 | Q>* | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_084639 | 289 | Q>del | IMD103; reduced production IgG antibodies in response to C.albicans infection [UniProt] | Yes | UniProt |
|
rs964199466 RCV000817741 |
290 | A>S | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001166768 COSM85195 rs1442047796 |
290 | A>V | pancreas Predisposition to invasive fungal disease due to CARD9 deficiency [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs143263677 RCV001304528 |
292 | R>L | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001308123 rs756275149 |
294 | H>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000003575 CA116192 rs121918338 |
295 | Q>* | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_084640 | 295 | Q>del | IMD103; reduced cytokine production in response to C.albicans infection [UniProt] | Yes | UniProt |
|
RCV001996826 rs751849304 |
299 | N>S | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs150234370 COSM1199583 CA5332936 RCV001064665 RCV003343799 |
305 | R>H | large_intestine Predisposition to invasive fungal disease due to CARD9 deficiency Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001057073 rs1833230862 |
308 | L>missing | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001166767 rs535051926 |
309 | R>C | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs747970437 RCV001351951 |
314 | R>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001965302 rs778923486 |
315 | R>C | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs141105175 RCV001918043 |
315 | R>H | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs141105175 RCV002547736 RCV001360106 |
315 | R>L | Predisposition to invasive fungal disease due to CARD9 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_084641 rs775284320 |
323 | E>missing | IMD103 [UniProt] | Yes |
UniProt dbSNP |
|
VAR_084641 rs775284320 |
323 | E>del | IMD103 [UniProt] | Yes |
UniProt dbSNP |
|
CA5332885 rs143669690 RCV000276851 |
326 | E>K | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5332884 RCV000643998 rs143669690 RCV002530014 |
326 | E>Q | Predisposition to invasive fungal disease due to CARD9 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200783121 RCV002553863 RCV001059496 |
333 | R>H | Predisposition to invasive fungal disease due to CARD9 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs189645633 RCV000702567 |
336 | S>F | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002012953 rs1286367809 |
342 | R>C | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001920391 rs2131441804 |
343 | I>V | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001209386 rs748158820 |
344 | E>G | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002037820 rs2131441761 |
349 | Q>* | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2131441744 RCV002013188 |
352 | E>missing | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766983144 RCV001058380 |
354 | A>T | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1338999078 RCV001212993 |
361 | I>V | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
COSM1624722 RCV001166246 rs778706578 |
364 | R>Q | liver Predisposition to invasive fungal disease due to CARD9 deficiency [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs151211588 RCV000818698 |
364 | R>W | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001233808 RCV002567888 rs533844645 |
365 | E>G | Predisposition to invasive fungal disease due to CARD9 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA201611565 rs146829177 RCV000552494 |
366 | E>K | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs145052557 RCV001233024 RCV002567874 |
368 | H>Q | Predisposition to invasive fungal disease due to CARD9 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002284445 RCV000824420 rs141270365 |
369 | A>T | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000693975 rs145574224 |
372 | A>T | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs149712114 CA145370 RCV000074439 VAR_070830 |
373 | R>P | Predisposition to invasive fungal disease due to CARD9 deficiency IMD103; reduced cytokine production in response to C.albicans infection; does not affect NF-kappa-B transcriptional activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001061631 rs149712114 |
373 | R>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001950509 rs759837396 |
373 | R>W | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777420944 RCV000703613 |
374 | G>D | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_084642 | 380 | A>P | IMD103 [UniProt] | Yes | UniProt |
|
rs139646302 RCV001933559 |
380 | A>T | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5332808 RCV000531324 RCV002092661 rs3124993 RCV003221960 |
385 | V>L | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs752913001 RCV001941008 |
386 | R>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs567395579 CA5332802 RCV000339870 RCV002524593 |
392 | A>V | Inborn genetic diseases Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001309118 rs747645575 |
395 | L>V | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368200571 RCV001047731 |
409 | V>M | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001301601 rs752685448 |
413 | L>F | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM4946107 RCV002551432 rs147340708 RCV001038901 COSM1569365 |
415 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine Inborn genetic diseases Predisposition to invasive fungal disease due to CARD9 deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001204001 rs754119986 COSM1177616 |
415 | R>W | endometrium Predisposition to invasive fungal disease due to CARD9 deficiency [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3905641 RCV001919834 COSM3905642 rs767880614 |
420 | T>M | Variant assessed as Somatic; MODERATE impact. Predisposition to invasive fungal disease due to CARD9 deficiency [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001303338 rs374295826 |
422 | V>I | Variant assessed as Somatic; MODERATE impact. Predisposition to invasive fungal disease due to CARD9 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000810181 rs760553828 |
426 | D>G | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770587024 RCV001216375 |
426 | D>N | Variant assessed as Somatic; MODERATE impact. Predisposition to invasive fungal disease due to CARD9 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1564367364 RCV000687133 |
431 | S>missing | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002562788 RCV001950583 rs781498143 |
432 | P>S | Inborn genetic diseases Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000398422 rs750049509 CA5332701 |
444 | L>V | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM4864243 COSM1106752 RCV001326569 rs767361965 |
445 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium Predisposition to invasive fungal disease due to CARD9 deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs746470735 RCV000697296 |
451 | D>missing | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001238490 rs1411071075 |
451 | D>N | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1833134746 RCV001870158 |
452 | K>I | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs745340091 RCV001295782 |
453 | G>D | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001321333 rs200189320 |
454 | C>Y | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs756953515 RCV001053265 |
457 | G>S | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144348041 RCV000910713 |
458 | G>A | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5332654 rs774571551 RCV000643999 |
461 | P>L | Variant assessed as Somatic; MODERATE impact. Predisposition to invasive fungal disease due to CARD9 deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1266195975 RCV001372907 |
464 | P>L | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
CA5332649 RCV000644002 rs373635926 RCV002523759 |
465 | F>L | Predisposition to invasive fungal disease due to CARD9 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001215537 rs1588719803 |
469 | H>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs770567400 RCV001064933 |
469 | H>Y | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001339316 rs1833090922 |
474 | L>S | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002543818 RCV001321087 rs374115294 |
475 | R>L | Predisposition to invasive fungal disease due to CARD9 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001944942 rs374115294 |
475 | R>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001453055 rs202052103 |
475 | R>W | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2131432720 RCV001922071 |
478 | H>D | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000818941 rs1588719771 |
478 | H>R | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1406534280 RCV001208585 |
479 | D>E | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
gnomAD ClinVar dbSNP |
|
rs909815670 RCV001881797 |
479 | D>N | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001971817 rs1453391726 |
489 | E>K | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs149308743 RCV001253958 |
494 | R>H | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002030128 rs778435234 |
497 | E>K | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs974044165 RCV001303837 |
498 | S>C | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001235490 rs758002574 |
504 | R>missing | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1461055 RCV001949068 rs1285747619 |
506 | R>H | large_intestine Predisposition to invasive fungal disease due to CARD9 deficiency [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV002009771 rs1405347175 |
507 | A>V | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1036710533 RCV001313963 |
514 | G>A | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs766890741 RCV001940951 |
514 | G>R | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs761418899 RCV002049893 |
515 | W>* | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1106751 RCV001063970 rs773889930 |
516 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium Predisposition to invasive fungal disease due to CARD9 deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs888151831 RCV001337401 |
518 | G>W | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs756632228 RCV002014897 |
520 | E>missing | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2131430673 RCV002029778 |
521 | D>A | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2131430667 RCV002011427 |
521 | D>E | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001339894 rs745730969 |
522 | R>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000801137 rs144943839 RCV002534671 |
523 | E>Q | Predisposition to invasive fungal disease due to CARD9 deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000644003 rs141310444 RCV002533266 CA5332575 |
524 | N>T | Inborn genetic diseases Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001253957 rs1425733902 |
525 | T>I | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2131430592 RCV002027145 |
526 | T>A | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1162006405 RCV001965833 |
526 | T>R | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1833060032 RCV001043259 |
530 | N>missing | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000779577 rs1405807688 |
537 | S>Q | Predisposition to invasive fungal disease due to CARD9 deficiency [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
| rs995161906 | 2 | S>L | No | TOPMed | |
| rs375098569 | 3 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs35051231 | 4 | Y>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs775128842 | 4 | Y>D | No |
ExAC gnomAD |
|
| rs148523221 | 8 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1034840190 | 9 | E>D | No |
TOPMed gnomAD |
|
| rs754129074 | 9 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs4077515 | 12 | S>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2131445679 | 13 | V>A | No | Ensembl | |
| rs377431254 | 13 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs971785161 | 15 | E>D | No |
TOPMed gnomAD |
|
|
COSM304883 rs1833289004 |
16 | G>D | large_intestine [Cosmic] | No |
cosmic curated TOPMed |
| rs144081957 | 16 | G>S | No |
ESP ExAC gnomAD |
|
| rs372586424 | 18 | R>L | No |
ESP TOPMed |
|
| rs372586424 | 18 | R>Q | No |
ESP TOPMed |
|
| rs773760350 | 19 | V>E | No |
ExAC gnomAD |
|
| rs1588726560 | 22 | T>P | No | Ensembl | |
| rs368845667 | 26 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs776666302 | 29 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs201587695 | 29 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1833287648 | 31 | T>I | No | Ensembl | |
| rs1247747413 | 32 | P>L | No | gnomAD | |
| rs778826719 | 32 | P>S | No |
ExAC gnomAD |
|
| rs1833287477 | 33 | Y>* | No | TOPMed | |
| rs2131445607 | 33 | Y>F | No | Ensembl | |
| TCGA novel | 34 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768845190 | 36 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs200980160 | 37 | C>G | No |
ExAC gnomAD |
|
| rs2131445586 | 37 | C>W | No | Ensembl | |
| rs903633185 | 38 | K>Q | No | TOPMed | |
| rs750817144 | 41 | N>K | No |
ExAC gnomAD |
|
| rs1795504480 | 42 | P>L | No | gnomAD | |
| rs1359993470 | 43 | D>N | No | gnomAD | |
| rs931686923 | 44 | D>E | No |
TOPMed gnomAD |
|
| rs1564370286 | 44 | D>N | No | Ensembl | |
|
COSM4812367 COSM1314626 |
45 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1407323914 | 46 | E>K | No | gnomAD | |
| rs1588726463 | 48 | V>G | No | Ensembl | |
| rs1414848495 | 50 | S>N | No | gnomAD | |
| rs149255047 | 50 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1588726458 | 50 | S>R | No | Ensembl | |
| rs1414848495 | 50 | S>T | No | gnomAD | |
| rs867997087 | 51 | D>A | No | Ensembl | |
| rs1833285586 | 51 | D>E | No |
TOPMed gnomAD |
|
| rs867997087 | 51 | D>G | No | Ensembl | |
| rs922901788 | 51 | D>N | No |
TOPMed gnomAD |
|
| rs1265712771 | 52 | P>S | No | gnomAD | |
| rs762536086 | 53 | N>K | No |
ExAC gnomAD |
|
| rs377708969 | 53 | N>T | No | gnomAD | |
| rs752221728 | 55 | V>I | No |
ExAC gnomAD |
|
| rs1040324141 | 57 | R>C | No |
TOPMed gnomAD |
|
| rs1040324141 | 57 | R>G | No |
TOPMed gnomAD |
|
|
COSM4816046 COSM455592 |
58 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4148870 rs979849048 COSM4148871 |
59 | R>Q | pancreas [Cosmic] | No |
cosmic curated TOPMed gnomAD |
|
COSM3395670 COSM4946688 rs907791516 |
59 | R>W | Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 61 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765010252 | 61 | V>L | No |
ExAC gnomAD |
|
| rs1278536786 | 62 | G>R | No | gnomAD | |
| rs138379141 | 63 | V>M | No |
ESP gnomAD |
|
| rs1276381998 | 65 | L>P | No | gnomAD | |
|
COSM4948874 COSM1461063 |
68 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1310355874 | 69 | Q>* | No | gnomAD | |
| rs1045323623 | 69 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs376793464 | 70 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs746089018 | 71 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs769905929 | 71 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs865827438 | 72 | G>D | No | Ensembl | |
| rs1383238223 | 73 | H>P | No |
TOPMed gnomAD |
|
| rs1380371712 | 73 | H>Q | No | gnomAD | |
| rs1383238223 | 73 | H>R | No |
TOPMed gnomAD |
|
| rs1449809662 | 73 | H>Y | No |
TOPMed gnomAD |
|
| rs1177629322 | 74 | K>R | No | gnomAD | |
| rs2131444790 | 76 | Y>C | No | Ensembl | |
|
COSM374849 rs1182277747 |
78 | A>V | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs1833269956 | 80 | L>V | No | TOPMed | |
| rs748704811 | 81 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs748704811 | 81 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs778562065 | 82 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1293607739 | 83 | L>V | No |
TOPMed gnomAD |
|
| TCGA novel | 84 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1239721232 | 85 | L>F | No |
TOPMed gnomAD |
|
| rs141691778 | 88 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1833268870 | 92 | K>E | No | Ensembl | |
| rs755827252 | 94 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs767265193 | 96 | G>D | No |
ExAC gnomAD |
|
| rs774343383 | 97 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1833268163 | 98 | E>G | No | gnomAD | |
| rs1253739630 | 98 | E>K | No | gnomAD | |
| rs200248442 | 99 | P>L | No |
1000Genomes ExAC gnomAD |
|
| rs200248442 | 99 | P>R | No |
1000Genomes ExAC gnomAD |
|
| rs867858918 | 100 | A>D | No | Ensembl | |
| rs988002931 | 101 | R>H | No |
TOPMed gnomAD |
|
| rs1245788237 | 102 | V>A | No | gnomAD | |
| rs1490862744 | 102 | V>I | No |
TOPMed gnomAD |
|
| rs1291757290 | 105 | M>T | No | gnomAD | |
| rs761129740 | 108 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs761129740 | 108 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs766469254 | 109 | A>T | No |
ExAC TOPMed gnomAD |
|
|
COSM3905650 COSM3905649 rs769183409 |
111 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1277687271 | 112 | E>* | No | TOPMed | |
| rs1833259560 | 112 | E>G | No | Ensembl | |
| rs1277687271 | 112 | E>K | No | TOPMed | |
| rs1375893670 | 117 | Q>* | No | gnomAD | |
| rs775922619 | 117 | Q>H | No |
ExAC gnomAD |
|
| rs1402887021 | 119 | L>M | No | gnomAD | |
| rs1171915203 | 119 | L>P | No | gnomAD | |
| rs1833258944 | 120 | M>I | No | Ensembl | |
| rs2131444368 | 121 | T>S | No | Ensembl | |
| rs1434258703 | 121 | T>S | No | gnomAD | |
| rs1180760730 | 122 | E>D | No | gnomAD | |
| rs770545753 | 127 | Q>* | No |
ExAC gnomAD |
|
| rs1833257824 | 130 | V>A | No | Ensembl | |
| rs1833257712 | 131 | Q>E | No | gnomAD | |
| rs752622733 | 131 | Q>R | No |
ExAC gnomAD |
|
| rs367638485 | 132 | D>H | No |
ESP TOPMed gnomAD |
|
| rs367638485 | 132 | D>N | No |
ESP TOPMed gnomAD |
|
| rs1833257523 | 133 | L>P | No | gnomAD | |
| rs778718632 | 135 | A>T | No |
ExAC gnomAD |
|
| rs756177404 | 135 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs201183869 | 137 | L>P | No | 1000Genomes | |
| rs1333436987 | 137 | L>V | No |
TOPMed gnomAD |
|
| TCGA novel | 138 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs375341696 | 141 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs757521454 | 142 | D>E | No |
ExAC gnomAD |
|
| rs977007616 | 144 | I>V | No |
TOPMed gnomAD |
|
| rs1833256414 | 146 | E>A | No | TOPMed | |
| rs1833256414 | 146 | E>G | No | TOPMed | |
| rs1407588129 | 146 | E>K | No |
TOPMed gnomAD |
|
| rs757627986 | 148 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1187475967 | 149 | V>L | No | gnomAD | |
| rs776001547 | 150 | K>* | No |
ExAC gnomAD |
|
| rs760135155 | 151 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs771788289 | 158 | Q>R | No |
ExAC gnomAD |
|
| rs1400756254 | 160 | R>G | No |
TOPMed gnomAD |
|
| rs747925378 | 160 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1407238585 | 161 | V>L | No |
TOPMed gnomAD |
|
| rs1407238585 | 161 | V>M | No |
TOPMed gnomAD |
|
| rs781419489 | 165 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs2131444130 | 165 | K>R | No | Ensembl | |
| rs1027396974 | 166 | E>D | No | Ensembl | |
| rs1474413260 | 167 | E>G | No | gnomAD | |
| rs1464905457 | 167 | E>K | No | gnomAD | |
| rs1195029502 | 168 | C>R | No | gnomAD | |
| TCGA novel | 168 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751776187 | 169 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs751776187 | 169 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs112244317 | 170 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs758753704 | 170 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs759954061 | 171 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs759954061 | 171 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs140508365 | 171 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs895657922 | 172 | S>G | No | Ensembl | |
| rs760181332 | 172 | S>R | No |
ExAC gnomAD |
|
|
rs368657832 COSM1247347 |
173 | R>H | oesophagus [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs759264924 | 173 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1460267430 | 174 | E>G | No |
TOPMed gnomAD |
|
| rs753492242 | 174 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs571629670 | 176 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs757342734 | 177 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1043128646 | 177 | R>H | No |
TOPMed gnomAD |
|
| rs757342734 | 177 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs921246629 | 178 | C>Y | No | gnomAD | |
| rs1833252763 | 179 | K>E | No | gnomAD | |
|
COSM3655709 rs1833252645 COSM4551742 |
180 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs1833252453 | 181 | E>K | No | TOPMed | |
| rs1458932569 | 182 | N>K | No | gnomAD | |
| rs1239413034 | 182 | N>S | No | TOPMed | |
| rs753025581 | 185 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs779130876 | 186 | A>T | No |
ExAC gnomAD |
|
| rs370943995 | 187 | M>V | No |
ESP TOPMed gnomAD |
|
| rs755380617 | 188 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs755380617 | 188 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs766903486 | 188 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs766903486 | 188 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs982980603 | 190 | A>E | No |
TOPMed gnomAD |
|
| rs982980603 | 190 | A>V | No |
TOPMed gnomAD |
|
| rs1833251104 | 191 | H>P | No | gnomAD | |
| rs948124005 | 192 | Q>E | No |
TOPMed gnomAD |
|
| rs1414612967 | 193 | S>G | No | gnomAD | |
| rs1564369501 | 193 | S>R | No | gnomAD | |
| rs767094927 | 194 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs767094927 | 194 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs774113192 | 195 | E>K | No |
ExAC gnomAD |
|
| rs369155916 | 197 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs369155916 | 197 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
|
rs772249417 COSM4783993 COSM1461060 |
199 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs572881831 | 199 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs755256889 | 201 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs973150104 | 201 | M>L | No |
TOPMed gnomAD |
|
| rs1015554677 | 202 | R>Q | No |
TOPMed gnomAD |
|
| rs754223003 | 202 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1833249495 | 203 | N>D | No | TOPMed | |
| rs780444469 | 203 | N>K | No |
ExAC gnomAD |
|
| rs756583189 | 204 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs750996208 | 204 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs766925666 | 205 | D>E | No |
ExAC gnomAD |
|
| rs1413588215 | 207 | Q>R | No | TOPMed | |
| rs761400518 | 209 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1480017098 | 211 | D>E | No | Ensembl | |
| rs1334082405 | 211 | D>H | No | gnomAD | |
|
COSM1489805 COSM4815893 |
211 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1833243808 | 212 | Q>* | No | TOPMed | |
| rs2131443529 | 212 | Q>R | No | Ensembl | |
| rs1460589648 | 213 | L>F | No | gnomAD | |
| rs1249693190 | 216 | S>G | No |
TOPMed gnomAD |
|
| rs1419197999 | 216 | S>N | No | gnomAD | |
|
COSM3655707 COSM4905632 |
218 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1833243291 | 218 | M>T | No | Ensembl | |
| rs1833243130 | 221 | E>D | No | Ensembl | |
| rs1472007566 | 221 | E>G | No |
TOPMed gnomAD |
|
| rs535114962 | 222 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs745942827 | 223 | D>Y | No |
TOPMed gnomAD |
|
| rs1194511412 | 224 | C>R | No |
TOPMed gnomAD |
|
| rs1346520191 | 224 | C>Y | No | gnomAD | |
| rs753501051 | 225 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs779886479 | 226 | V>A | No |
ExAC gnomAD |
|
| rs1564369282 | 227 | E>D | No | TOPMed | |
| rs899947136 | 227 | E>Q | No | Ensembl | |
| rs1345349795 | 227 | E>V | No | gnomAD | |
| rs755876210 | 228 | R>C | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 230 | H>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1326775525 | 231 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1260624695 | 235 | R>K | No | gnomAD | |
| rs752754226 | 235 | R>S | No |
ExAC gnomAD |
|
| rs1294011106 | 237 | A>S | No |
TOPMed gnomAD |
|
| rs1294011106 | 237 | A>T | No |
TOPMed gnomAD |
|
| rs1833241325 | 238 | M>V | No | TOPMed | |
| rs759803953 | 240 | Q>* | No |
ExAC gnomAD |
|
| rs1833241190 | 240 | Q>H | No |
TOPMed gnomAD |
|
| rs1329681150 | 243 | S>I | No |
TOPMed gnomAD |
|
| rs1329681150 | 243 | S>N | No |
TOPMed gnomAD |
|
| rs1833240944 | 243 | S>R | No | TOPMed | |
| rs1833240828 | 246 | L>M | No | TOPMed | |
| rs773804555 | 249 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs201544368 | 249 | E>G | No |
1000Genomes TOPMed |
|
| rs1182042091 | 251 | Q>* | No | TOPMed | |
| rs1209593337 | 251 | Q>H | No | gnomAD | |
| rs748703154 | 253 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs537666229 | 254 | K>R | No |
1000Genomes ExAC gnomAD |
|
|
rs2131443309 COSM3905645 COSM3905646 |
255 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1833240065 | 255 | A>V | No |
TOPMed gnomAD |
|
| rs768109613 | 256 | L>V | No |
ExAC gnomAD |
|
| COSM1106754 | 257 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs755901186 | 258 | Q>* | No |
ExAC gnomAD |
|
| rs1186496045 | 258 | Q>R | No | TOPMed | |
| rs866295639 | 259 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs866295639 | 259 | A>V | No | gnomAD | |
| rs1401449882 | 262 | Q>* | No | gnomAD | |
| rs1476380832 | 265 | E>K | No | gnomAD | |
| rs765298420 | 266 | A>V | No |
ExAC gnomAD |
|
| rs1473942095 | 267 | S>P | No | gnomAD | |
|
COSM1106753 rs200709047 COSM4869408 |
268 | V>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1268643152 | 270 | E>D | No | gnomAD | |
| rs1833236132 | 270 | E>Q | No | TOPMed | |
| rs767935044 | 271 | G>R | No |
ExAC gnomAD |
|
| rs968702841 | 272 | K>N | No | TOPMed | |
| rs1439129616 | 274 | D>N | No | gnomAD | |
| rs1171727333 | 275 | R>G | No | gnomAD | |
| rs774882992 | 276 | S>I | No |
ExAC TOPMed gnomAD |
|
| rs774882992 | 276 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs764533162 | 278 | P>R | No |
ExAC gnomAD |
|
| rs1175148607 | 278 | P>S | No | gnomAD | |
| rs1450919887 | 279 | Y>C | No | gnomAD | |
| rs1833234700 | 279 | Y>H | No | Ensembl | |
| rs1191571837 | 281 | Q>P | No | gnomAD | |
| rs1833234346 | 282 | V>E | No |
TOPMed gnomAD |
|
| rs1833234419 | 282 | V>I | No | TOPMed | |
| rs1273655087 | 283 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1437329318 | 285 | E>G | No | gnomAD | |
| rs1203654678 | 285 | E>K | No | gnomAD | |
| rs1833233725 | 286 | D>G | No | TOPMed | |
| rs1236811222 | 286 | D>N | No | gnomAD | |
| rs545240228 | 288 | R>Q | No |
1000Genomes TOPMed gnomAD |
|
|
rs143263677 COSM3926444 COSM3926445 |
292 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs372651415 | 292 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1171363898 | 293 | D>N | No | gnomAD | |
| rs1420662699 | 294 | H>L | No | gnomAD | |
| rs1452844397 | 294 | H>Y | No | Ensembl | |
|
COSM1461059 COSM4783341 |
295 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1468502009 | 296 | E>K | No |
TOPMed gnomAD |
|
| rs1833232307 | 297 | Q>* | No | gnomAD | |
| rs1564369070 | 297 | Q>H | No | TOPMed | |
| rs1213183040 | 298 | A>T | No | gnomAD | |
|
COSM3905644 COSM3905643 rs1319124870 |
300 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1025690812 | 301 | I>T | No |
TOPMed gnomAD |
|
| rs764561565 | 302 | F>Y | No |
ExAC gnomAD |
|
| rs367837889 | 303 | S>F | No |
ESP ExAC gnomAD |
|
| rs1374257837 | 304 | L>P | No | gnomAD | |
| rs764674043 | 305 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs764674043 | 305 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs776229142 | 306 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1467509517 | 307 | D>E | No |
TOPMed gnomAD |
|
| rs1420017314 | 309 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1420017314 | 309 | R>L | No |
TOPMed gnomAD |
|
|
COSM4828832 rs772871267 COSM4828831 |
312 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1180364209 | 313 | A>P | No |
TOPMed gnomAD |
|
| rs1833227931 | 316 | L>V | No | TOPMed | |
| rs781460508 | 317 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1234379041 | 317 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs781460508 | 317 | R>W | No |
ExAC TOPMed gnomAD |
|
|
COSM1461058 COSM4787235 |
318 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1349658399 | 318 | C>R | No | gnomAD | |
| rs779301338 | 318 | C>Y | No |
ExAC gnomAD |
|
| rs755467048 | 319 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1329073688 | 320 | E>G | No | gnomAD | |
| rs761950582 | 322 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1344488795 | 322 | K>E | No |
TOPMed gnomAD |
|
| rs749994446 | 323 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1174420190 | 324 | M>I | No | gnomAD | |
| rs761411125 | 324 | M>T | No |
ExAC gnomAD |
|
| rs774264495 | 325 | F>C | No |
ExAC TOPMed gnomAD |
|
| rs2131441959 | 325 | F>L | No | Ensembl | |
| rs774264495 | 325 | F>S | No |
ExAC TOPMed gnomAD |
|
| rs370912459 | 326 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs1833214320 | 327 | L>P | No | TOPMed | |
| rs1833214186 | 328 | Q>* | No | Ensembl | |
|
TCGA novel rs1833214131 |
329 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1202481712 | 330 | L>R | No | gnomAD | |
| rs371942000 | 333 | R>C | No |
TOPMed gnomAD |
|
| rs371942000 | 333 | R>S | No |
TOPMed gnomAD |
|
| rs1342644932 | 335 | D>N | No | gnomAD | |
| rs2131441834 | 337 | K>E | No | Ensembl | |
| rs978282649 | 338 | M>I | No | Ensembl | |
| rs960676324 | 338 | M>L | No |
TOPMed gnomAD |
|
| rs1035251446 | 338 | M>T | No | Ensembl | |
| rs1833213263 | 339 | Y>* | No | Ensembl | |
| rs1815637048 | 341 | D>E | No | TOPMed | |
| rs755342196 | 342 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs755342196 | 342 | R>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 342 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1174464433 | 343 | I>S | No | TOPMed | |
| rs748158820 | 344 | E>A | No |
TOPMed gnomAD |
|
|
COSM1701958 rs749738633 |
344 | E>K | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2131441779 | 346 | I>M | No | Ensembl | |
| rs903427838 | 348 | L>P | No | TOPMed | |
| rs780560852 | 350 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1372869351 | 350 | M>R | No | Ensembl | |
| rs1180563428 | 355 | I>T | No | gnomAD | |
| rs1833212057 | 355 | I>V | No | Ensembl | |
|
COSM204818 rs1011068857 |
357 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA gnomAD |
| rs1475912007 | 357 | R>W | No | gnomAD | |
|
COSM3926443 COSM3926442 |
358 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1833162418 | 360 | A>S | No | TOPMed | |
| rs746544609 | 362 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs746544609 | 362 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs757745178 | 363 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1408692813 | 365 | E>K | No | gnomAD | |
| rs1833161628 | 366 | E>A | No | Ensembl | |
| rs1358186688 | 366 | E>D | No |
TOPMed gnomAD |
|
| rs1432428102 | 367 | L>R | No | Ensembl | |
| TCGA novel | 369 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764216689 | 370 | Q>* | No |
ExAC gnomAD |
|
| rs2131438072 | 375 | L>P | No | Ensembl | |
| rs1833160595 | 376 | Q>* | No | TOPMed | |
| rs747779269 | 377 | E>K | No |
ExAC gnomAD |
|
| rs1564367778 | 378 | K>E | No | Ensembl | |
|
COSM4899337 COSM3655706 |
379 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs532713129 | 380 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs940518611 | 381 | L>V | No |
TOPMed gnomAD |
|
|
COSM4387588 COSM4387589 rs751616314 |
382 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3215215 rs540891739 COSM4372229 |
382 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1345510343 | 383 | K>E | No | gnomAD | |
| rs764093590 | 383 | K>M | No |
ExAC TOPMed gnomAD |
|
| rs1455610083 | 383 | K>N | No |
TOPMed gnomAD |
|
|
COSM4857964 COSM487223 |
383 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764093590 | 383 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs3124993 | 385 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1049117042 | 386 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs765405752 | 387 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1487066101 | 389 | G>C | No | gnomAD | |
| rs560188869 | 390 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1201698109 | 391 | K>T | No |
TOPMed gnomAD |
|
| rs567395579 | 392 | A>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1463974856 | 392 | A>S | No |
TOPMed gnomAD |
|
| rs1463974856 | 392 | A>T | No |
TOPMed gnomAD |
|
| rs1564367696 | 394 | E>* | No | Ensembl | |
| rs1310160104 | 396 | Q>E | No |
TOPMed gnomAD |
|
| rs1319695978 | 398 | Q>H | No |
TOPMed gnomAD |
|
| rs980067180 | 401 | Q>H | No | Ensembl | |
| rs773952828 | 402 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs1833157753 | 402 | C>Y | No | TOPMed | |
| rs2131437885 | 403 | E>K | No | Ensembl | |
| rs1326413579 | 404 | A>G | No | gnomAD | |
| rs1326413579 | 404 | A>V | No | gnomAD | |
| rs921094576 | 405 | Q>* | No |
TOPMed gnomAD |
|
| rs139454076 | 405 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1430559286 | 406 | L>P | No | gnomAD | |
| rs989407851 | 406 | L>V | No | gnomAD | |
| rs1448042281 | 408 | A>D | No | gnomAD | |
|
COSM107048 rs144193548 |
408 | A>T | skin [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1263126134 | 410 | E>* | No |
TOPMed gnomAD |
|
| rs1263126134 | 410 | E>K | No |
TOPMed gnomAD |
|
| rs988070503 | 411 | G>S | No | Ensembl | |
| rs1363765487 | 412 | R>G | No | TOPMed | |
| rs1212610666 | 412 | R>S | No | Ensembl | |
| rs1833156267 | 416 | Q>* | No | Ensembl | |
| rs1372834289 | 416 | Q>P | No |
TOPMed gnomAD |
|
| rs1372834289 | 416 | Q>R | No |
TOPMed gnomAD |
|
| rs1833156082 | 417 | Q>* | No | Ensembl | |
| rs761143967 | 417 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs761143967 | 417 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs773817103 | 418 | L>V | No |
ExAC gnomAD |
|
| rs1388447556 | 419 | E>G | No | gnomAD | |
| rs1463581048 | 420 | T>A | No |
TOPMed gnomAD |
|
| rs767880614 | 420 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1833155593 | 421 | L>P | No | TOPMed | |
| rs1833155349 | 423 | L>P | No | gnomAD | |
| rs1018650043 | 424 | S>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770587024 | 426 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs1168769407 | 427 | L>P | No | gnomAD | |
| rs373303924 | 428 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1489803 COSM4814858 |
428 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1422852753 | 429 | D>G | No |
TOPMed gnomAD |
|
| rs748156964 | 430 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs748156964 | 430 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs769996548 | 431 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs775708373 | 431 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs781498143 | 432 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs757521707 | 432 | P>L | No |
ExAC gnomAD |
|
| rs781498143 | 432 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs369675305 | 433 | R>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201289327 | 434 | R>K | No |
ExAC gnomAD |
|
| rs201289327 | 434 | R>M | No |
ExAC gnomAD |
|
| rs1341937846 | 434 | R>S | No | gnomAD | |
| rs1272989117 | 436 | Q>E | No |
TOPMed gnomAD |
|
| rs753366983 | 439 | S>A | No |
ExAC gnomAD |
|
| rs1833135731 | 439 | S>L | No | TOPMed | |
| rs753366983 | 439 | S>P | No |
ExAC gnomAD |
|
| rs1472305486 | 440 | L>V | No | gnomAD | |
| rs746656551 | 442 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs746656551 | 442 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs767361965 | 445 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs767361965 | 445 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs761720338 | 446 | D>N | No |
ExAC gnomAD |
|
| TCGA novel | 448 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1564367133 | 450 | S>L | No | Ensembl | |
| rs375345378 | 451 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs144348041 | 458 | G>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs140362628 | 458 | G>R | No |
1000Genomes ESP TOPMed gnomAD |
|
| rs144348041 | 458 | G>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs140362628 | 458 | G>W | No |
1000Genomes ESP TOPMed gnomAD |
|
| rs1833093056 | 459 | G>E | No | TOPMed | |
| rs1344909246 | 459 | G>R | No | gnomAD | |
| rs750490172 | 460 | S>G | No |
ExAC gnomAD |
|
| rs1833092741 | 460 | S>I | No | TOPMed | |
| rs149608339 | 460 | S>R | No |
ESP ExAC TOPMed |
|
| rs761957942 | 461 | P>S | No |
ExAC gnomAD |
|
| rs775962800 | 463 | Q>L | No |
ExAC gnomAD |
|
| rs1432119909 | 464 | P>S | No | gnomAD | |
| rs376921377 | 465 | F>S | No |
ESP TOPMed gnomAD |
|
| rs2131432815 | 466 | A>P | No | Ensembl | |
| rs2131432810 | 467 | A>S | No | Ensembl | |
| rs1193860026 | 467 | A>V | No | gnomAD | |
| rs746599709 | 470 | Q>K | No |
ExAC gnomAD |
|
| rs1833091122 | 472 | Q>* | No | Ensembl | |
| TCGA novel | 472 | Q>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777324101 | 472 | Q>R | No |
ExAC gnomAD |
|
| rs1588719792 | 473 | V>G | No | Ensembl | |
| rs2131432731 | 476 | N>I | No | Ensembl | |
| rs529268922 | 477 | P>T | No | 1000Genomes | |
| rs150480370 | 478 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs930352441 | 480 | A>E | No | gnomAD | |
| rs1442164218 | 480 | A>T | No | TOPMed | |
| rs1833070179 | 481 | G>R | No |
TOPMed gnomAD |
|
| rs1833070135 | 481 | G>V | No | TOPMed | |
| rs1391085330 | 482 | L>R | No | gnomAD | |
| rs758540382 | 484 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1422565556 | 485 | G>R | No |
TOPMed gnomAD |
|
| rs2131431283 | 486 | E>A | No | Ensembl | |
| rs1188918578 | 486 | E>K | No | gnomAD | |
| rs1188918578 | 486 | E>Q | No | gnomAD | |
| TCGA novel | 486 | E>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1268381681 | 489 | E>D | No |
TOPMed gnomAD |
|
| rs1203818122 | 490 | K>E | No | Ensembl | |
| rs1357502344 | 490 | K>N | No | gnomAD | |
| rs759998766 | 490 | K>R | No |
ExAC gnomAD |
|
| rs1268928951 | 492 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1339311526 | 492 | R>W | No |
TOPMed gnomAD |
|
|
rs754297768 COSM3952496 |
493 | R>W | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1402747741 | 494 | R>C | No |
TOPMed gnomAD |
|
| rs1402747741 | 494 | R>S | No |
TOPMed gnomAD |
|
| rs778435234 | 497 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1417369241 | 497 | E>A | No | gnomAD | |
| rs1027073004 | 497 | E>D | No |
TOPMed gnomAD |
|
| rs1417369241 | 497 | E>G | No | gnomAD | |
| rs778435234 | 497 | E>Q | No |
ExAC gnomAD |
|
| rs1197970700 | 500 | E>G | No |
TOPMed gnomAD |
|
| rs1588719110 | 502 | Y>S | No | Ensembl | |
| rs1489924914 | 503 | R>C | No |
TOPMed gnomAD |
|
| rs1489924914 | 503 | R>G | No |
TOPMed gnomAD |
|
| rs961385067 | 504 | R>K | No | TOPMed | |
| rs868007797 | 506 | R>C | No |
TOPMed gnomAD |
|
| rs868007797 | 506 | R>G | No |
TOPMed gnomAD |
|
| rs1405347175 | 507 | A>D | No |
TOPMed gnomAD |
|
| rs1448397897 | 507 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1334589111 | 509 | R>G | No |
TOPMed gnomAD |
|
| rs766920744 | 509 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs766920744 | 509 | R>T | No |
ExAC TOPMed gnomAD |
|
| rs1400360367 | 511 | M>I | No | gnomAD | |
| rs1214060145 | 511 | M>T | No |
TOPMed gnomAD |
|
| rs2131430794 | 512 | Q>* | No | Ensembl | |
| rs761020680 | 512 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1833062822 | 513 | K>Q | No | TOPMed | |
| rs750954369 | 513 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs1036710533 | 514 | G>E | No | Ensembl | |
| rs1833062524 | 515 | W>* | No | gnomAD | |
| rs1466608983 | 516 | R>Q | No | gnomAD | |
| rs77469895 | 517 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201816932 | 518 | G>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs888151831 | 518 | G>R | No | gnomAD | |
| rs1588718891 | 519 | E>G | No | Ensembl | |
| rs1246515596 | 519 | E>Q | No | gnomAD | |
| rs1588718884 | 520 | E>A | No | Ensembl | |
| rs867291822 | 520 | E>D | No | Ensembl | |
| rs370908281 | 521 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs745730969 | 522 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs745730969 | 522 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1365772840 | 522 | R>W | No |
TOPMed gnomAD |
|
|
TCGA novel rs937955016 |
523 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs144943839 | 523 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1833061081 | 524 | N>D | No | Ensembl | |
| rs141310444 | 524 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1425733902 | 525 | T>N | No |
TOPMed gnomAD |
|
| rs1162006405 | 526 | T>K | No | gnomAD | |
| rs1162006405 | 526 | T>M | No | gnomAD | |
| rs530306494 | 527 | G>D | No |
1000Genomes gnomAD |
|
| rs1262961255 | 528 | S>G | No | gnomAD | |
| rs1185498565 | 528 | S>I | No | gnomAD | |
| rs996948091 | 528 | S>R | No |
TOPMed gnomAD |
|
| rs1833060212 | 529 | D>Y | No | TOPMed | |
| rs1022441593 | 531 | T>A | No |
TOPMed gnomAD |
|
| rs1358233637 | 531 | T>I | No | gnomAD | |
| rs1230264069 | 532 | D>N | No | gnomAD | |
| rs577731110 | 533 | T>I | No |
TOPMed gnomAD |
|
| rs577731110 | 533 | T>N | No |
TOPMed gnomAD |
|
| rs913996997 | 533 | T>P | No |
TOPMed gnomAD |
|
| rs1183310191 | 534 | E>D | No |
TOPMed gnomAD |
|
| rs1833059447 | 534 | E>K | No | gnomAD | |
| rs750856827 | 535 | G>S | No |
ExAC gnomAD |
|
| rs878945189 | 536 | S>T | No | Ensembl |
1 associated diseases with Q9H257
[MIM: 212050]: Immunodeficiency 103, susceptibility to fungal infections (IMD103)
An autosomal recessive primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. . Note=The disease is caused by variants affecting the gene represented in this entry. Defects induce reduced numbers of CD4(+) Th17 lymphocytes as well as a lack of monocyte-derived cytokines in response to Candida strains (PubMed:23335372). Neutrophils show a selective Candida albicans killing defect with abnormal ultrastructural phagolysosomes and outgrowth of hyphae (PubMed:23335372). .
Without disease ID
- An autosomal recessive primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. . Note=The disease is caused by variants affecting the gene represented in this entry. Defects induce reduced numbers of CD4(+) Th17 lymphocytes as well as a lack of monocyte-derived cytokines in response to Candida strains (PubMed:23335372). Neutrophils show a selective Candida albicans killing defect with abnormal ultrastructural phagolysosomes and outgrowth of hyphae (PubMed:23335372). .
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| CBM complex | A protein complex comprising Bcl10, MALT1 and a CARD domain-containing protein (CARD9, CARD10 or CARD11); plays a role in signal transduction during NF-kappaB activation. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| CARD domain binding | Binding to a CARD (N-terminal caspase recruitment) domain, a protein-protein interaction domain that belongs to the death domain-fold superfamily. These protein molecule families are similar in structure with each consisting of six or seven anti-parallel alpha-helices that form highly specific homophilic interactions between signaling partners. CARD exists in the N-terminal prodomains of several caspases and in apoptosis-regulatory proteins and mediates the assembly of CARD-containing proteins that participate in activation or suppression of CARD carrying members of the caspase family. |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein self-association | Binding to a domain within the same polypeptide. |
32 GO annotations of biological process
| Name | Definition |
|---|---|
| antifungal innate immune response | An defense response against a fungus mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens. |
| defense response to Gram-positive bacterium | Reactions triggered in response to the presence of a Gram-positive bacterium that act to protect the cell or organism. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| host-mediated regulation of intestinal microbiota composition | The biological process involved in maintaining the steady-state number of cells within a population of free-living cells such as the bacteria in the gut. |
| immunoglobulin mediated immune response | An immune response mediated by immunoglobulins, whether cell-bound or in solution. |
| JNK cascade | An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier |
| neutrophil mediated immunity | Any process involved in the carrying out of an immune response by a neutrophil. |
| positive regulation of canonical NF-kappaB signal transduction | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of chemokine production | Any process that activates or increases the frequency, rate, or extent of chemokine production. |
| positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that activates or increases the activity of a cysteine-type endopeptidase involved in the apoptotic process. |
| positive regulation of cytokine production | Any process that activates or increases the frequency, rate or extent of production of a cytokine. |
| positive regulation of cytokine production involved in inflammatory response | Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of granulocyte macrophage colony-stimulating factor production | Any process that activates or increases the frequency, rate, or extent of granulocyte macrophage colony-stimulating factor production. |
| positive regulation of innate immune response | Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. |
| positive regulation of interleukin-17 production | Any process that activates or increases the frequency, rate, or extent of production of any member of the interleukin-17 family of cytokines. |
| positive regulation of interleukin-6 production | Any process that activates or increases the frequency, rate, or extent of interleukin-6 production. |
| positive regulation of JNK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade. |
| positive regulation of macrophage cytokine production | Any process that increases the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of stress-activated MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the stress-activated MAPK cascade. |
| positive regulation of T-helper 17 type immune response | Any process that activates or increases the frequency, rate or extent of T-helper 17 type immune response. |
| positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| regulation of interleukin-2 production | Any process that modulates the frequency, rate, or extent of interleukin-2 production. |
| response to aldosterone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aldosterone stimulus. |
| response to exogenous dsRNA | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an exogenous double-stranded RNA stimulus. |
| response to muramyl dipeptide | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muramyl dipeptide stimulus. Muramyl dipeptide is derived from peptidoglycan. |
| response to peptidoglycan | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptidoglycan stimulus. Peptidoglycan is a bacterial cell wall macromolecule. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| stress-activated MAPK cascade | The series of molecular signals in which a stress-activated MAP kinase cascade relays a signal; MAP kinase cascades involve at least three protein kinase activities and culminate in the phosphorylation and activation of a MAP kinase. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BXL7 | CARD11 | Caspase recruitment domain-containing protein 11 | Homo sapiens (Human) | EV |
| A2AIV8 | Card9 | Caspase recruitment domain-containing protein 9 | Mus musculus (Mouse) | EV |
| Q8CIS0 | Card11 | Caspase recruitment domain-containing protein 11 | Mus musculus (Mouse) | SS |
| Q9EPY0 | Card9 | Caspase recruitment domain-containing protein 9 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSDYENDDEC | WSVLEGFRVT | LTSVIDPSRI | TPYLRQCKVL | NPDDEEQVLS | DPNLVIRKRK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VGVLLDILQR | TGHKGYVAFL | ESLELYYPQL | YKKVTGKEPA | RVFSMIIDAS | GESGLTQLLM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TEVMKLQKKV | QDLTALLSSK | DDFIKELRVK | DSLLRKHQER | VQRLKEECEA | GSRELKRCKE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ENYDLAMRLA | HQSEEKGAAL | MRNRDLQLEI | DQLKHSLMKA | EDDCKVERKH | TLKLRHAMEQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RPSQELLWEL | QQEKALLQAR | VQELEASVQE | GKLDRSSPYI | QVLEEDWRQA | LRDHQEQANT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IFSLRKDLRQ | GEARRLRCME | EKEMFELQCL | ALRKDSKMYK | DRIEAILLQM | EEVAIERDQA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IATREELHAQ | HARGLQEKDA | LRKQVRELGE | KADELQLQVF | QCEAQLLAVE | GRLRRQQLET |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LVLSSDLEDG | SPRRSQELSL | PQDLEDTQLS | DKGCLAGGGS | PKQPFAALHQ | EQVLRNPHDA |
| 490 | 500 | 510 | 520 | 530 | |
| GLSSGEPPEK | ERRRLKESFE | NYRRKRALRK | MQKGWRQGEE | DRENTTGSDN | TDTEGSĀ Ā Ā Ā |