Q16584
Gene name |
MAP3K11 |
Protein name |
Mitogen-activated protein kinase kinase kinase 11 |
Names |
Mixed lineage kinase 3, Src-homology 3 domain-containing proline-rich kinase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4296 |
EC number |
2.7.11.25: Protein-serine/threonine kinases |
Protein Class |
SERINE-THREONINE PROTEIN KINASE (PTHR23257) |

Descriptions
Mixed lineage kinase 3 (MLK3) is a mitogen-activated protein kinase kinase kinase (MAPKKK) that activates the c-Jun N-terminal kinase (JNK) pathway through the dual phosphorylation of mitogen-activated protein kinase kinases 4/7 (MKK4/7). The catalytic domain of MLK3 is flanked by an N-terminal SH3 domain and a centrally located zipper and Cdc42/Rac-interactive binding (CRIB) motif. Zipper-mediated homo-oligomerization is required for full activity of MLK3, proper substrate phosphorylation, and activation of the JNK pathway. MLK3 is autoinhibited through an interaction between its SH3 domain and a proline-containing sequence between the zipper and the CRIB motif. Activated forms of the small GTPases Cdc42 and Rac interact with MLK3 in a CRIB motif-dependent manner to increase the autophosphorylation of MLK3 and substrate phosphorylation activity and to potentiate MLK3-induced activation of JNK. Activated Cdc42 translocates MLK3 to membranes and induces activation loop phosphorylation of MLK3.
Autoinhibitory domains (AIDs)
Target domain |
463-485 (Proline-rich region) |
Relief mechanism |
Partner binding |
Assay |
Mutagenesis experiment, Deletion assay, Structural analysis |
Accessory elements
266-287 (Activation loop from InterPro)
Target domain |
117-379 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Zhang H et al. (2001) "Autoinhibition of mixed lineage kinase 3 through its Src homology 3 domain", The Journal of biological chemistry, 276, 45598-603
- Du Y et al. (2005) "Cdc42 induces activation loop phosphorylation and membrane targeting of mixed lineage kinase 3", The Journal of biological chemistry, 280, 42984-93
- Handley ME et al. (2007) "Mixed lineage kinases (MLKs): a role in dendritic cells, inflammation and immunity", International journal of experimental pathology, 88, 111-26
- Kokoszka ME et al. (2018) "Identification of two distinct peptide-binding pockets in the SH3 domain of human mixed-lineage kinase 3", The Journal of biological chemistry, 293, 13553-13565
Autoinhibited structure
Activated structure
5 structures for Q16584
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
5K26 | X-ray | 120 A | A/B | 41-105 | PDB |
5K28 | X-ray | 150 A | A/B | 44-105 | PDB |
6AQB | X-ray | 150 A | A/B | 41-108 | PDB |
6CQ7 | X-ray | 200 A | A | 41-108 | PDB |
AF-Q16584-F1 | Predicted | AlphaFoldDB |
690 variants for Q16584
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA381272573 rs760075378 |
3 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760075378 CA6103730 |
3 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771234612 CA6103728 |
6 | S>N | No |
ClinGen ExAC gnomAD |
|
CA381272523 rs1352613333 |
10 | K>R | No |
ClinGen TOPMed |
|
CA381272513 rs771826070 |
11 | S>R | No |
ClinGen ExAC gnomAD |
|
rs771826070 CA6103725 |
11 | S>R | No |
ClinGen ExAC gnomAD |
|
CA381272508 rs1191636105 |
12 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA381272510 rs1333391484 |
12 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1565147146 CA381272498 |
14 | G>E | No |
ClinGen Ensembl |
|
rs1447857589 CA381272499 |
14 | G>R | No |
ClinGen gnomAD |
|
rs747598736 CA6103724 |
16 | W>* | No |
ClinGen ExAC gnomAD |
|
rs1335222742 CA381272471 |
18 | G>C | No |
ClinGen gnomAD |
|
CA381272469 rs1467914870 |
18 | G>D | No |
ClinGen gnomAD |
|
CA6103722 rs199933724 |
22 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs753790026 CA6103721 |
23 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381272436 rs1178685232 |
23 | G>D | No |
ClinGen gnomAD |
|
CA381272434 rs1178685232 |
23 | G>V | No |
ClinGen gnomAD |
|
rs1240874113 CA381272433 |
24 | G>S | No |
ClinGen gnomAD |
|
rs755903893 CA6103719 |
24 | G>V | No |
ClinGen ExAC gnomAD |
|
rs750295922 CA6103718 |
25 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103716 rs552446631 |
27 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA381272409 rs1355739728 |
28 | G>E | No |
ClinGen gnomAD |
|
CA6103715 rs752687885 |
29 | G>R | No |
ClinGen ExAC gnomAD |
|
CA6103712 rs147496400 |
31 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148528933 CA6103713 |
31 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1397964881 CA381272390 |
32 | P>S | No |
ClinGen gnomAD |
|
CA381272376 rs1403384788 |
34 | G>W | No |
ClinGen gnomAD |
|
rs771434772 CA6103710 |
35 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs1363005413 CA381272361 |
37 | K>Q | No |
ClinGen gnomAD |
|
rs142992228 CA381272345 |
39 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
CA6103708 rs773685190 |
39 | A>P | No |
ClinGen ExAC gnomAD |
|
CA6103707 rs142992228 |
39 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
rs768235387 CA6103704 |
40 | G>A | No |
ClinGen ExAC gnomAD |
|
rs778465179 CA6103705 |
40 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1203126571 CA381272335 |
41 | Y>C | No |
ClinGen gnomAD |
|
CA6103702 rs139047246 |
42 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
rs139047246 CA6103703 |
42 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
rs1026326777 CA223970517 |
43 | N>S | No |
ClinGen TOPMed |
|
CA6103701 rs756174920 |
44 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781077171 CA381272314 |
45 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781077171 CA6103699 |
45 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752914916 CA381272288 |
49 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1342710813 CA381272271 |
51 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs753987214 CA6103694 |
51 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA223970504 rs753987214 |
51 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA223970498 rs896569864 |
53 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs371729065 CA6103692 |
53 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1164471062 CA381272245 |
55 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA381272239 rs1179646952 |
56 | G>E | No |
ClinGen TOPMed |
|
CA6103691 rs773418840 |
57 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs1433311320 CA381272223 |
58 | D>Y | No |
ClinGen gnomAD |
|
rs767888238 CA6103690 |
60 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1478683624 CA381272168 |
61 | A>D | No |
ClinGen gnomAD |
|
rs1034821945 CA223970493 |
62 | L>M | No |
ClinGen Ensembl |
|
rs1438352728 CA381272154 |
62 | L>R | No |
ClinGen TOPMed |
|
rs1198633105 CA381272123 |
64 | K>M | No |
ClinGen gnomAD |
|
rs1489833518 CA381272112 |
65 | G>R | No |
ClinGen gnomAD |
|
rs762110211 CA6103689 |
66 | D>E | No |
ClinGen ExAC gnomAD |
|
rs367920151 CA223970488 |
66 | D>G | No |
ClinGen ESP TOPMed |
|
CA6103688 rs774092295 |
67 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103686 rs748790856 |
67 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103687 rs748790856 |
67 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381272075 rs748790856 |
67 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381272023 rs1590860080 |
70 | V>G | No |
ClinGen Ensembl |
|
rs1590860066 CA381271997 |
72 | S>F | No |
ClinGen Ensembl |
|
rs138254027 CA381271987 |
73 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6103684 rs138254027 |
73 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6103685 rs375370224 |
73 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs757018256 CA6103681 |
75 | A>G | No |
ClinGen ExAC gnomAD |
|
CA6103682 rs781013413 |
75 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755252434 CA6103678 |
76 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1168589417 CA381271876 |
81 | E>K | No |
ClinGen gnomAD |
|
rs766486524 CA6103676 |
82 | G>S | No |
ClinGen ExAC gnomAD |
|
rs756183843 CA6103675 |
83 | W>C | No |
ClinGen ExAC gnomAD |
|
rs750897139 CA6103674 |
85 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381271738 rs1479455998 |
88 | V>A | No |
ClinGen gnomAD |
|
CA6103671 rs774912406 |
92 | V>M | No |
ClinGen ExAC gnomAD |
|
CA6103668 rs763812821 |
96 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381271642 rs763812821 |
96 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201471095 CA381271628 |
97 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201471095 CA6103666 |
97 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1053101581 CA223970452 |
99 | Y>C | No |
ClinGen TOPMed |
|
CA381271583 rs1197004983 |
100 | V>M | No |
ClinGen gnomAD |
|
rs1223275370 CA381271551 |
102 | R>L | No |
ClinGen gnomAD |
|
CA6103665 rs769298739 |
102 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1343563904 CA381271544 |
103 | G>C | No |
ClinGen gnomAD |
|
CA381271526 rs1590859921 |
104 | G>D | No |
ClinGen Ensembl |
|
CA6103663 rs776563704 |
105 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA223970446 rs374422083 |
106 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
CA381271498 rs1328662251 |
106 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA381271488 rs1256126746 |
107 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs1400573402 CA381271470 |
108 | P>L | No |
ClinGen gnomAD |
|
CA381271465 rs1400573402 |
108 | P>R | No |
ClinGen gnomAD |
|
CA6103658 rs755162558 |
109 | C>F | No |
ClinGen ExAC gnomAD |
|
CA381271460 rs1590859887 |
109 | C>R | No |
ClinGen Ensembl |
|
rs750477481 CA6103654 |
110 | E>G | No |
ClinGen ExAC gnomAD |
|
rs756165003 CA6103656 |
110 | E>K | No |
ClinGen ExAC gnomAD |
|
CA6103655 rs756165003 |
110 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1590859863 CA381271421 |
111 | V>G | No |
ClinGen Ensembl |
|
CA381271412 rs1176818556 |
112 | A>G | No |
ClinGen gnomAD |
|
rs751937250 CA223970422 |
118 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103651 rs751937250 |
118 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757750590 CA6103652 |
118 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103650 rs200642724 |
120 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752339492 CA6103648 |
121 | E>D | No |
ClinGen ExAC gnomAD |
|
rs763432626 CA6103649 |
121 | E>G | No |
ClinGen ExAC |
|
rs759080222 CA6103646 |
122 | V>G | No |
ClinGen ExAC |
|
COSM1676182 CA6103647 rs764800427 |
122 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA6103645 rs776065218 |
123 | I>T | No |
ClinGen ExAC gnomAD |
|
rs916549536 CA223970409 |
123 | I>V | No |
ClinGen Ensembl |
|
CA381271225 rs1421025847 |
124 | G>S | No |
ClinGen TOPMed |
|
CA381271198 rs1274514626 |
127 | G>S | No |
ClinGen gnomAD |
|
rs1445309692 CA381271083 |
133 | R>T | No |
ClinGen gnomAD |
|
rs770880024 CA6103644 |
135 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1434610251 CA381271011 |
137 | R>* | No |
ClinGen TOPMed |
|
CA6103643 rs145388794 |
137 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6103642 rs773165963 |
139 | E>G | No |
ClinGen ExAC gnomAD |
|
CA223970398 rs866709252 |
139 | E>K | No |
ClinGen gnomAD |
|
CA381270976 rs773165963 |
139 | E>V | No |
ClinGen ExAC gnomAD |
|
CA6103641 rs771808903 |
140 | L>P | No |
ClinGen ExAC gnomAD |
|
rs747954057 CA6103640 |
145 | A>S | No |
ClinGen ExAC gnomAD |
|
rs371379749 CA6103637 |
146 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM272922 rs565087687 CA6103636 |
147 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
CA381270851 rs1239623139 |
147 | R>H | No |
ClinGen gnomAD |
|
CA381270838 rs1590859733 |
148 | Q>P | No |
ClinGen Ensembl |
|
CA381270794 rs1226191671 |
150 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA381270796 rs1226191671 |
150 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs377000140 CA6103629 |
151 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6103631 rs758769421 |
151 | D>N | No |
ClinGen ExAC |
|
rs34178129 CA223970386 VAR_040703 |
151 | D>V | No |
ClinGen UniProt Ensembl dbSNP |
|
rs545726160 CA381270757 |
152 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1290332129 CA381270752 |
153 | D>H | No |
ClinGen TOPMed gnomAD |
|
CA381270751 rs1290332129 |
153 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1380845904 CA381270695 |
159 | E>K | No |
ClinGen gnomAD |
|
rs760201740 CA381270678 |
161 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760201740 CA6103625 |
161 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103624 rs199497456 COSM1257262 |
162 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs374217526 CA223970374 |
162 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
CA6103623 rs374217526 |
162 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
rs1191445493 CA381270667 |
163 | Q>R | No |
ClinGen TOPMed |
|
CA6103622 rs761594078 |
166 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs774075066 CA6103621 |
169 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103620 rs770023643 |
172 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1022126157 CA223970364 |
175 | N>H | No |
ClinGen TOPMed |
|
rs1010772289 CA381270569 |
178 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs1010772289 CA223970362 |
178 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA381270547 rs1267602104 |
182 | V>M | No |
ClinGen gnomAD |
|
CA223970359 rs1026544299 |
184 | L>R | No |
ClinGen TOPMed |
|
CA381270509 rs1323198011 |
187 | P>L | No |
ClinGen gnomAD |
|
CA6103617 rs771076394 |
187 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1355122841 CA381270503 |
188 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs747090171 CA6103616 |
188 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1315870379 CA381270491 |
190 | C>S | No |
ClinGen gnomAD |
|
CA223970348 rs963383291 |
192 | V>M | No |
ClinGen TOPMed |
|
CA6103614 rs759030384 |
193 | M>I | No |
ClinGen ExAC gnomAD |
|
rs748525458 CA6103613 |
195 | Y>C | No |
ClinGen ExAC gnomAD |
|
COSM1214392 rs755401328 CA6103611 |
203 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA6103610 rs753384688 |
206 | A>G | No |
ClinGen ExAC gnomAD |
|
CA6103608 rs755558681 |
207 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755558681 CA381270390 |
207 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767433009 COSM1214393 CA6103606 |
208 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA381270385 rs890154327 |
208 | R>W | No |
ClinGen gnomAD |
|
rs1246742554 CA381270380 |
209 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs143451767 CA6103603 |
209 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs143451767 CA6103604 |
209 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1259828214 CA381270378 COSM94664 |
210 | V>M | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA381270370 rs1322496622 |
211 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs918749185 CA223970320 |
213 | H>Y | No |
ClinGen Ensembl |
|
CA6103600 rs771346201 |
216 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA223970316 rs1038555445 |
217 | N>S | No |
ClinGen Ensembl |
|
rs941553343 CA223970314 |
223 | A>T | No |
ClinGen Ensembl |
|
rs1398367524 CA381270290 |
223 | A>V | No |
ClinGen gnomAD |
|
rs372958068 CA6103599 |
224 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381270285 rs1466480687 |
224 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA6103598 rs772677421 |
227 | H>P | No |
ClinGen ExAC gnomAD |
|
rs772677421 CA6103597 |
227 | H>R | No |
ClinGen ExAC gnomAD |
|
rs748565430 CA6103596 |
228 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs779497729 CA6103595 |
232 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381270107 rs1239634843 |
235 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs749671008 CA6103593 |
236 | P>L | No |
ClinGen ExAC |
|
rs755824405 CA6103591 |
237 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749916030 CA6103590 |
245 | N>D | No |
ClinGen ExAC gnomAD |
|
rs1228392066 CA381269888 |
247 | I>L | No |
ClinGen TOPMed |
|
CA6103573 rs566592915 |
251 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA381268967 rs1451762656 |
251 | Q>R | No |
ClinGen TOPMed |
|
VAR_030604 CA6103572 rs17855912 |
252 | P>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs780832462 CA6103571 |
253 | I>V | No |
ClinGen ExAC |
|
rs758407931 CA6103568 |
256 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103569 rs532976710 |
256 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs752507549 CA6103566 |
257 | D>N | No |
ClinGen ExAC gnomAD |
|
CA6103564 rs145124492 |
258 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381361781 rs1489217049 |
261 | K>N | No |
ClinGen gnomAD |
|
CA381361729 rs1265477674 |
262 | T>I | No |
ClinGen gnomAD |
|
CA381361597 rs1355660580 |
266 | T>I | No |
ClinGen gnomAD |
|
CA381361595 rs1355660580 |
266 | T>S | No |
ClinGen gnomAD |
|
rs1277935437 CA381361457 |
272 | R>* | No |
ClinGen gnomAD |
|
rs1342930087 CA381361369 |
274 | W>S | No |
ClinGen gnomAD |
|
CA381361312 rs1318480068 |
275 | H>Q | No |
ClinGen gnomAD |
|
rs770083831 CA6103556 |
279 | Q>K | No |
ClinGen ExAC gnomAD |
|
VAR_040704 CA6103554 rs34594252 |
282 | A>G | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs746232637 CA6103555 |
282 | A>P | No |
ClinGen ExAC gnomAD |
|
COSM1719450 RCV001261746 rs746476599 CA6103552 |
283 | A>T | NS [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
rs1168234189 CA381361078 |
283 | A>V | No |
ClinGen gnomAD |
|
rs1424263938 CA381361055 |
284 | G>A | No |
ClinGen gnomAD |
|
CA381360997 rs1451140348 |
286 | Y>F | No |
ClinGen gnomAD |
|
rs1308198242 CA381360977 |
287 | A>T | No |
ClinGen TOPMed |
|
CA6103547 rs754755551 |
288 | W>C | No |
ClinGen ExAC gnomAD |
|
CA381360878 rs1469049424 |
289 | M>T | No |
ClinGen gnomAD |
|
rs1379207823 CA381360754 |
293 | V>I | No |
ClinGen Ensembl |
|
rs139170020 CA6103543 |
298 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
CA6103541 rs763030681 |
300 | S>F | No |
ClinGen ExAC gnomAD |
|
CA381360172 rs775906919 |
304 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM544509 CA381360209 rs1304044736 |
304 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA6103539 rs746858638 |
305 | V>I | No |
ClinGen ExAC gnomAD |
|
CA381359696 rs1281353516 |
318 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs375938376 CA6103518 |
319 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381359662 rs1366749993 |
320 | V>A | No |
ClinGen TOPMed |
|
rs1283233781 CA381359587 |
323 | R>C | No |
ClinGen gnomAD |
|
rs760960892 CA6103516 |
325 | I>T | No |
ClinGen ExAC gnomAD |
|
CA381359517 rs1373598848 |
326 | D>G | No |
ClinGen gnomAD |
|
CA381359492 rs1382367669 |
327 | C>Y | No |
ClinGen TOPMed |
|
rs772856050 CA6103515 |
328 | L>F | No |
ClinGen ExAC gnomAD |
|
rs371575835 CA6103514 |
330 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381359400 rs371575835 |
330 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381359360 rs1235089820 |
331 | A>S | No |
ClinGen TOPMed |
|
CA6103512 rs774055831 |
332 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA6103513 rs747650518 |
332 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA6103511 rs768688511 |
334 | V>I | No |
ClinGen ExAC gnomAD |
|
CA6103510 rs749202106 |
338 | K>R | No |
ClinGen ExAC |
|
CA381359189 rs1224178382 |
339 | L>F | No |
ClinGen gnomAD |
|
CA381359080 rs1201694600 |
345 | S>C | No |
ClinGen TOPMed |
|
rs1408968378 CA381359087 |
345 | S>T | No |
ClinGen gnomAD |
|
CA6103506 rs141071251 |
346 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6103505 rs141071251 |
346 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA381359076 rs1590857270 |
346 | T>P | No |
ClinGen Ensembl |
|
CA6103504 rs376825039 |
348 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6103501 rs371854714 |
349 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6103502 rs755072324 |
349 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs545865162 CA381358907 |
350 | P>H | No |
ClinGen 1000Genomes TOPMed |
|
CA224016327 rs545865162 |
350 | P>L | No |
ClinGen 1000Genomes TOPMed |
|
CA381358856 rs1218144252 |
352 | A>T | No |
ClinGen gnomAD |
|
rs761098005 CA6103499 |
353 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA381358795 rs1391525641 |
355 | M>L | No |
ClinGen TOPMed |
|
CA381358612 rs1173196729 |
357 | D>A | No |
ClinGen TOPMed gnomAD |
|
rs886936618 CA224016322 |
357 | D>N | No |
ClinGen Ensembl |
|
rs763902491 CA6103478 |
360 | A>E | No |
ClinGen ExAC gnomAD |
|
rs763902491 CA6103477 |
360 | A>V | No |
ClinGen ExAC gnomAD |
|
CA224016282 rs917618420 |
361 | Q>K | No |
ClinGen TOPMed |
|
rs1590857173 CA381358345 |
362 | D>A | No |
ClinGen Ensembl |
|
CA381358203 rs1188948719 |
364 | H>Q | No |
ClinGen gnomAD |
|
CA6103475 rs543409399 |
365 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs543409399 CA6103476 |
365 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6103473 rs759349343 |
370 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381357985 rs1315184966 |
371 | S>C | No |
ClinGen TOPMed |
|
CA6103472 rs776572682 |
372 | I>V | No |
ClinGen ExAC gnomAD |
|
CA381357887 rs1248343880 |
374 | Q>P | No |
ClinGen TOPMed |
|
CA6103471 rs770654079 |
376 | L>V | No |
ClinGen ExAC gnomAD |
|
CA6103470 rs746813047 |
376 | L>W | No |
ClinGen ExAC gnomAD |
|
CA6103469 rs147249960 |
377 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1304477677 CA381357610 |
378 | A>G | No |
ClinGen gnomAD |
|
CA6103468 rs575103977 |
378 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA381357606 rs1304477677 COSM3980560 |
378 | A>V | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs374611372 CA224016272 |
379 | L>P | No |
ClinGen ESP TOPMed |
|
CA381357596 rs1446264416 |
380 | E>A | No |
ClinGen gnomAD |
|
CA381357536 rs780040675 |
381 | A>E | No |
ClinGen ExAC gnomAD |
|
CA6103466 rs780040675 |
381 | A>G | No |
ClinGen ExAC gnomAD |
|
rs749367172 CA6103467 |
381 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1020532992 CA381357230 |
388 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA224016267 rs1020532992 |
388 | P>Q | No |
ClinGen TOPMed gnomAD |
|
CA381357142 rs1590857118 |
390 | D>A | No |
ClinGen Ensembl |
|
CA224016265 rs1010931488 |
390 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs1436047755 CA381357153 |
390 | D>N | No |
ClinGen gnomAD |
|
CA224016263 rs375814282 |
391 | S>F | No |
ClinGen ESP TOPMed |
|
CA381357092 rs1445889967 |
391 | S>P | No |
ClinGen TOPMed |
|
rs1437402902 CA381356827 |
395 | M>I | No |
ClinGen gnomAD |
|
rs1252484418 CA381356826 |
396 | Q>* | No |
ClinGen gnomAD |
|
CA381356729 rs1177554366 |
397 | E>G | No |
ClinGen gnomAD |
|
CA381356670 rs1384166469 |
398 | G>D | No |
ClinGen TOPMed |
|
rs1212881027 CA381356535 |
401 | R>C | No |
ClinGen gnomAD |
|
CA224016258 rs755142176 |
401 | R>H | No |
ClinGen Ensembl |
|
rs1350178676 CA381356398 |
403 | I>T | No |
ClinGen gnomAD |
|
rs554945636 CA224016255 |
404 | Q>H | No |
ClinGen 1000Genomes TOPMed |
|
rs1239750361 CA381356353 |
404 | Q>L | No |
ClinGen gnomAD |
|
rs977571973 CA224016253 |
405 | G>S | No |
ClinGen Ensembl |
|
CA381356256 rs1441281148 |
408 | D>A | No |
ClinGen TOPMed |
|
rs1441281148 CA381356252 |
408 | D>G | No |
ClinGen TOPMed |
|
CA6103461 rs752024811 |
409 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs968973687 CA224016251 |
414 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA381355753 rs1271729182 |
416 | E>K | No |
ClinGen gnomAD |
|
CA381355660 rs1262880736 |
419 | S>G | No |
ClinGen gnomAD |
|
rs749434963 CA6103447 |
419 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769708799 CA6103445 |
425 | T>R | No |
ClinGen ExAC |
|
rs1385939653 CA381355354 |
427 | A>E | No |
ClinGen gnomAD |
|
CA381355312 rs1362978718 |
429 | R>G | No |
ClinGen TOPMed |
|
rs1461773554 CA381355172 |
433 | S>P | No |
ClinGen gnomAD |
|
rs781760357 CA6103443 |
434 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs757885090 CA381355098 |
437 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs868760048 CA224016212 |
440 | R>Q | No |
ClinGen gnomAD |
|
CA381355058 rs1374926279 |
440 | R>W | No |
ClinGen gnomAD |
|
rs1432606646 CA381355038 |
441 | R>H | No |
ClinGen gnomAD |
|
CA381355011 rs1565144637 |
442 | E>A | No |
ClinGen Ensembl |
|
rs1195685772 CA381355021 |
442 | E>K | No |
ClinGen gnomAD |
|
CA6103441 rs186746836 |
443 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6103440 rs777957821 |
448 | W>L | No |
ClinGen ExAC gnomAD |
|
CA224016208 rs758811212 |
449 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381354737 rs1338670256 |
454 | E>Q | No |
ClinGen gnomAD |
|
rs1242312183 CA381354595 |
459 | L>V | No |
ClinGen TOPMed |
|
CA381354483 rs1411645768 |
463 | Q>L | No |
ClinGen gnomAD |
|
rs1474898072 CA381354445 |
465 | D>H | No |
ClinGen TOPMed |
|
CA224016203 rs995731687 |
466 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs773167892 CA381354305 |
468 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103431 rs773167892 |
468 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1454847400 CA381354292 |
469 | P>L | No |
ClinGen gnomAD |
|
CA381354185 rs1406803417 |
474 | R>C | No |
ClinGen gnomAD |
|
rs775513372 CA6103428 |
474 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1345969662 CA381354161 |
476 | G>E | No |
ClinGen TOPMed |
|
CA6103427 rs770108989 |
478 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381354067 rs745917799 |
480 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381354062 rs1352509256 |
480 | R>H | No |
ClinGen gnomAD |
|
rs745917799 CA6103426 |
480 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771164223 CA6103424 |
481 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1283166107 CA381354045 |
481 | S>T | No |
ClinGen TOPMed |
|
rs1412829529 CA381353960 |
484 | R>P | No |
ClinGen TOPMed gnomAD |
|
CA381353958 rs1412829529 |
484 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA381353979 rs771234053 |
484 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1175592890 CA381353956 |
485 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs1175592890 CA381353957 |
485 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA6103422 rs778355372 |
485 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1033228794 CA381353919 |
487 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs1033228794 CA224016194 |
487 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs1213199235 CA381353921 |
487 | D>V | No |
ClinGen TOPMed |
|
rs758623501 CA6103421 |
488 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748613462 CA6103420 |
489 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103419 rs778418004 |
490 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381353841 rs1259075111 |
491 | R>C | No |
ClinGen gnomAD |
|
rs1296574616 CA381353782 |
494 | M>R | No |
ClinGen TOPMed |
|
CA381353807 rs1590856868 |
494 | M>V | No |
ClinGen Ensembl |
|
rs1225060892 CA381353662 |
497 | D>Y | No |
ClinGen gnomAD |
|
CA6103390 rs763931056 |
501 | R>H | No |
ClinGen ExAC gnomAD |
|
CA224015976 rs779414471 |
506 | A>V | No |
ClinGen Ensembl |
|
CA224015973 rs866556592 |
508 | P>L | No |
ClinGen Ensembl |
|
CA381353225 rs1252000839 |
508 | P>S | No |
ClinGen gnomAD |
|
rs867415651 CA224015967 |
509 | G>D | No |
ClinGen gnomAD |
|
CA6103389 rs762853042 |
510 | L>H | No |
ClinGen ExAC gnomAD |
|
rs1197980927 CA381353148 |
511 | D>G | No |
ClinGen gnomAD |
|
CA224015961 rs754046278 |
511 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754046278 CA6103388 |
511 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381353116 rs1305691784 |
512 | R>Q | No |
ClinGen gnomAD |
|
rs1284056410 CA381353119 |
512 | R>W | No |
ClinGen TOPMed |
|
rs766774276 CA6103387 |
513 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1024901368 CA224015940 |
515 | N>I | No |
ClinGen TOPMed gnomAD |
|
CA224015937 rs1014666874 |
517 | F>L | No |
ClinGen TOPMed |
|
rs900261135 CA381352943 |
518 | E>D | No |
ClinGen gnomAD |
|
rs760824405 CA6103386 |
518 | E>K | No |
ClinGen ExAC gnomAD |
|
CA6103384 rs772428256 |
520 | G>A | No |
ClinGen ExAC |
|
rs773390948 CA381352927 |
520 | G>R | No |
ClinGen ExAC gnomAD |
|
rs773390948 CA6103385 |
520 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1442187639 CA381352893 |
521 | P>S | No |
ClinGen gnomAD |
|
CA381352862 rs1353280447 |
523 | D>N | No |
ClinGen gnomAD |
|
rs1480728022 CA381352859 |
523 | D>V | No |
ClinGen TOPMed |
|
CA381352815 rs1393909421 |
525 | P>L | No |
ClinGen gnomAD |
|
CA381352840 rs1410076470 |
525 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA224015921 rs891816160 |
526 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs891816160 CA381352811 |
526 | T>P | No |
ClinGen TOPMed gnomAD |
|
CA381352806 rs891816160 |
526 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA6103383 rs762343923 |
527 | F>Y | No |
ClinGen ExAC gnomAD |
|
CA381352706 rs1479496615 |
530 | F>C | No |
ClinGen gnomAD |
|
rs1234561020 CA381352702 |
530 | F>L | No |
ClinGen gnomAD |
|
rs1161517276 CA381352698 |
531 | R>* | No |
ClinGen TOPMed |
|
rs749661072 CA6103380 |
531 | R>L | No |
ClinGen ExAC gnomAD |
|
rs779681234 CA6103379 |
533 | I>M | No |
ClinGen ExAC gnomAD |
|
rs942825847 CA224015910 |
533 | I>V | No |
ClinGen TOPMed |
|
CA381352617 rs1232448416 |
534 | Q>* | No |
ClinGen gnomAD |
|
CA381351434 rs1590856186 |
535 | L>W | No |
ClinGen Ensembl |
|
CA381351404 rs1209765133 |
536 | E>A | No |
ClinGen gnomAD |
|
CA6103353 rs777849778 |
537 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778801240 CA6103350 |
539 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA381351243 rs61736582 |
540 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6103349 rs61736582 |
540 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs866483610 CA224015502 |
543 | A>T | No |
ClinGen gnomAD |
|
rs1363650198 CA381351155 |
543 | A>V | No |
ClinGen gnomAD |
|
rs1590856163 CA381351147 |
544 | W>G | No |
ClinGen Ensembl |
|
CA6103347 rs750589238 |
546 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA224015491 rs1037993507 |
546 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA381351010 rs1037993507 |
546 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1369199782 CA381350923 |
548 | S>F | No |
ClinGen gnomAD |
|
CA381350925 rs1369199782 |
548 | S>Y | No |
ClinGen gnomAD |
|
rs1006256054 CA381350921 |
549 | P>A | No |
ClinGen gnomAD |
|
rs895107481 CA224015458 |
549 | P>L | No |
ClinGen gnomAD |
|
rs895107481 CA381350894 |
549 | P>R | No |
ClinGen gnomAD |
|
rs1006256054 CA224015465 |
549 | P>S | No |
ClinGen gnomAD |
|
rs376244842 CA6103344 |
550 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6103343 rs764566604 |
550 | R>Q | No |
ClinGen ExAC |
|
CA6103339 rs574384864 |
551 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6103340 rs574384864 |
551 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs776334879 CA6103338 |
551 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103337 rs770556617 |
553 | E>K | No |
ClinGen ExAC gnomAD |
|
rs772898141 CA6103335 |
557 | N>D | No |
ClinGen ExAC gnomAD |
|
rs1260593037 CA381350588 |
557 | N>S | No |
ClinGen TOPMed |
|
rs748057055 CA6103333 |
560 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs771728761 CA6103334 |
560 | R>W | No |
ClinGen ExAC gnomAD |
|
CA224015421 rs778997363 |
561 | R>* | No |
ClinGen ExAC gnomAD |
|
CA6103332 rs778997363 |
561 | R>G | No |
ClinGen ExAC gnomAD |
|
CA6103331 rs373571525 |
561 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381350335 rs1166020627 |
563 | C>R | No |
ClinGen gnomAD |
|
rs148160764 CA6103330 |
563 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
rs554314267 CA6103329 |
564 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs757456029 CA6103328 |
565 | A>T | No |
ClinGen ExAC gnomAD |
|
CA6103327 rs751805434 |
565 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1251580071 CA381350233 |
566 | W>* | No |
ClinGen gnomAD |
|
CA381350223 rs1195910294 |
566 | W>C | No |
ClinGen gnomAD |
|
CA381350236 rs1565143965 |
566 | W>R | No |
ClinGen Ensembl |
|
CA6103326 rs777793382 |
568 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1704243 rs758480097 CA6103325 |
570 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA381350131 rs758480097 |
570 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381350021 rs1439691829 |
572 | K>M | No |
ClinGen gnomAD |
|
rs753146804 CA6103324 |
573 | P>A | No |
ClinGen ExAC gnomAD |
|
CA381349955 rs1274694611 |
574 | G>E | No |
ClinGen gnomAD |
|
rs1412779351 CA381349809 |
578 | N>S | No |
ClinGen TOPMed |
|
rs1373657564 CA381349537 |
584 | R>C | No |
ClinGen gnomAD |
|
rs144864133 CA381349534 |
584 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs144864133 CA6103298 |
584 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381349527 rs1415227854 |
585 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA381349499 rs1358826764 |
586 | D>G | No |
ClinGen TOPMed |
|
rs768612025 CA6103295 |
587 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs149401275 CA6103296 |
587 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6103293 rs775506696 |
588 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103294 rs775506696 |
588 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1305309214 CA381349402 |
589 | T>I | No |
ClinGen gnomAD |
|
rs769523347 CA6103292 |
590 | W>* | No |
ClinGen ExAC gnomAD |
|
rs199601318 CA6103291 |
593 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA381349307 rs1210465343 |
593 | D>H | No |
ClinGen gnomAD |
|
rs1003478674 CA381349059 |
598 | S>F | No |
ClinGen TOPMed |
|
rs1565143859 CA381349067 |
598 | S>P | No |
ClinGen Ensembl |
|
rs1003478674 CA224015098 |
598 | S>Y | No |
ClinGen TOPMed |
|
rs778810390 CA6103287 |
599 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381349057 rs1565143851 |
599 | P>S | No |
ClinGen Ensembl |
|
CA381348998 rs1353687739 |
601 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA6103286 rs755116870 |
602 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749690694 CA6103285 |
603 | P>L | No |
ClinGen ExAC gnomAD |
|
COSM690000 CA224015064 rs1042442533 |
603 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA6103284 rs138968470 |
604 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6103283 rs138968470 |
604 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs145297254 CA381348907 |
605 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6103282 rs145297254 |
605 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA224015025 rs1016509933 |
606 | P>H | No |
ClinGen TOPMed |
|
CA381348889 rs1016509933 |
606 | P>R | No |
ClinGen TOPMed |
|
CA381348895 rs1390626707 |
606 | P>S | No |
ClinGen Ensembl |
|
CA6103280 rs141657750 |
607 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs943279511 CA224015010 |
607 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA381348842 rs751259676 |
608 | A>E | No |
ClinGen ExAC gnomAD |
|
CA6103279 rs751259676 |
608 | A>V | No |
ClinGen ExAC gnomAD |
|
rs762540493 CA6103277 |
610 | N>S | No |
ClinGen ExAC gnomAD |
|
rs746313672 CA6103248 |
612 | N>I | No |
ClinGen ExAC gnomAD |
|
CA381346177 rs781769081 |
612 | N>K | No |
ClinGen ExAC gnomAD |
|
CA381346183 rs746313672 |
612 | N>T | No |
ClinGen ExAC gnomAD |
|
rs771189864 CA381346149 |
614 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771189864 CA6103246 |
614 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103244 rs777262484 |
615 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1207383117 CA381346144 |
615 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1208972864 CA381346130 |
616 | P>A | No |
ClinGen gnomAD |
|
rs1208972864 CA381346132 |
616 | P>T | No |
ClinGen gnomAD |
|
CA381346120 rs758121140 |
617 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1223774168 CA381346112 |
617 | S>I | No |
ClinGen gnomAD |
|
CA6103243 rs758121140 |
617 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA224010487 rs1016317747 |
619 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs1290682547 CA381346067 |
620 | P>H | No |
ClinGen gnomAD |
|
CA224010486 rs1005917008 |
620 | P>S | No |
ClinGen TOPMed |
|
rs376240928 CA6103242 |
621 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA224010483 rs376240928 |
621 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381346023 rs1304476407 |
622 | E>D | No |
ClinGen TOPMed |
|
rs754488458 CA6103240 |
623 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381346008 rs754488458 |
623 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103237 rs753716966 |
625 | R>T | No |
ClinGen ExAC gnomAD |
|
CA381345968 rs573026581 |
626 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs573026581 CA6103236 |
626 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6103235 rs573026581 |
626 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA381345939 rs1414128469 |
628 | P>A | No |
ClinGen gnomAD |
|
rs1182749295 CA381345922 |
628 | P>L | No |
ClinGen gnomAD |
|
CA6103233 rs753834812 |
629 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1052224019 CA224010438 |
631 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA6103232 rs763182102 |
631 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381345887 rs763182102 |
631 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769940928 CA381345880 |
632 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769940928 CA6103229 |
632 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103228 rs759751814 |
635 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs947432304 CA224010433 |
636 | G>E | No |
ClinGen TOPMed |
|
CA224010426 rs747721707 |
637 | T>M | No |
ClinGen TOPMed |
|
CA381345748 rs1354321094 |
638 | P>L | No |
ClinGen gnomAD |
|
rs1229528448 CA381345749 |
638 | P>S | No |
ClinGen gnomAD |
|
CA381345737 rs1397478572 |
639 | K>T | No |
ClinGen gnomAD |
|
rs933398144 CA224010417 |
642 | Q>R | No |
ClinGen TOPMed |
|
rs778215901 CA224010402 |
643 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs771511538 CA6103226 |
643 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103225 COSM3980559 rs199635742 |
644 | A>V | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
rs1162788032 CA381345607 |
646 | L>M | No |
ClinGen TOPMed gnomAD |
|
CA224010383 rs984302953 |
647 | R>C | No |
ClinGen gnomAD |
|
CA6103222 rs747732702 |
647 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA224010380 rs938290041 |
648 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA6103220 rs754471887 |
649 | T>A | No |
ClinGen ExAC gnomAD |
|
CA381345557 rs1264131233 |
650 | A>T | No |
ClinGen gnomAD |
|
CA224010366 rs766364469 |
653 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA6103216 rs750345450 |
653 | A>V | No |
ClinGen ExAC gnomAD |
|
CA6103215 rs749294156 |
654 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381345432 rs1295178937 |
657 | L>P | No |
ClinGen gnomAD |
|
CA381345415 rs1459532849 |
658 | G>V | No |
ClinGen gnomAD |
|
CA6103214 rs761531372 |
659 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM39634 rs752958965 CA6103213 |
659 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs752958965 CA381345404 |
659 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776901400 CA6103210 |
660 | D>G | No |
ClinGen ExAC gnomAD |
|
CA6103212 rs765625058 |
660 | D>N | No |
ClinGen ExAC gnomAD |
|
rs776901400 CA6103211 |
660 | D>V | No |
ClinGen ExAC gnomAD |
|
CA224010347 rs1032192769 |
662 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA6103208 rs761204178 |
663 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370331573 CA6103206 |
664 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1462235316 CA381345332 |
666 | G>D | No |
ClinGen TOPMed |
|
rs1442610236 CA381345338 |
666 | G>S | No |
ClinGen gnomAD |
|
rs768336877 CA6103203 |
669 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779565351 CA6103202 |
669 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779565351 CA6103201 |
669 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755607002 CA6103200 |
670 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381345272 rs1391630281 |
671 | R>C | No |
ClinGen gnomAD |
|
CA6103198 rs781052493 |
671 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103199 rs781052493 |
671 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103196 rs751442598 |
672 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1590853137 CA381345223 |
674 | S>F | No |
ClinGen Ensembl |
|
rs1454145339 CA381345230 |
674 | S>T | No |
ClinGen TOPMed gnomAD |
|
CA6103193 COSM1214391 rs551941259 |
675 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA6103190 rs773754882 |
676 | T>R | No |
ClinGen ExAC gnomAD |
|
rs774745538 CA6103185 |
678 | P>L | No |
ClinGen ExAC gnomAD |
|
rs549942073 CA6103186 |
678 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6103183 rs769028417 |
679 | P>A | No |
ClinGen ExAC gnomAD |
|
CA6103182 rs748895865 COSM1719449 |
679 | P>L | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs199769348 CA6103179 |
680 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA381345131 rs1421151535 |
680 | T>P | No |
ClinGen TOPMed |
|
rs199769348 CA381345121 |
680 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6103177 rs372241785 |
681 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1408098964 CA381345087 |
682 | T>M | No |
ClinGen gnomAD |
|
CA381345080 rs145992599 |
683 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103175 rs145992599 COSM110554 |
683 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs754035122 CA6103173 |
684 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374573657 CA224010161 |
684 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
rs201108277 CA6103171 |
685 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6103170 rs113014372 |
687 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762256510 CA6103168 |
688 | T>N | No |
ClinGen ExAC gnomAD |
|
CA6103166 rs764372087 |
689 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763236463 CA6103165 |
690 | P>A | No |
ClinGen ExAC gnomAD |
|
rs775207886 CA6103164 |
690 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381344951 rs1266210797 |
691 | P>L | No |
ClinGen gnomAD |
|
rs909448899 CA224010112 |
691 | P>T | No |
ClinGen TOPMed |
|
CA6103162 rs144595056 |
692 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs775959086 CA6103161 |
694 | P>L | No |
ClinGen ExAC TOPMed |
|
CA6103156 rs563384057 |
696 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6103157 rs11227236 |
696 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6103154 rs374223116 |
698 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
CA6103153 rs756339382 |
699 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103151 rs781205052 |
700 | L>H | No |
ClinGen ExAC gnomAD |
|
CA6103150 rs752003340 |
702 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752003340 CA6103149 |
702 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753055866 CA6103146 |
704 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763348971 CA6103147 |
704 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381344762 rs763348971 |
704 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103143 rs201727045 COSM1355984 |
706 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs201727045 CA6103142 |
706 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs760321394 CA6103141 |
707 | P>L | No |
ClinGen ExAC |
|
CA381344684 rs1354278764 |
709 | P>S | No |
ClinGen gnomAD |
|
CA381344673 rs1221859252 |
710 | A>V | No |
ClinGen TOPMed |
|
rs1365010117 CA381344650 |
712 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs1365010117 CA381344644 |
712 | L>R | No |
ClinGen TOPMed gnomAD |
|
CA6103138 rs772174216 |
712 | L>V | No |
ClinGen ExAC gnomAD |
|
CA6103136 rs778522527 |
713 | L>F | No |
ClinGen ExAC gnomAD |
|
rs143609435 CA6103134 |
717 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs143609435 CA6103133 |
717 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381344559 rs1415287978 |
718 | I>V | No |
ClinGen gnomAD |
|
rs887510001 CA224009935 |
722 | Q>H | No |
ClinGen Ensembl |
|
CA6103130 rs764029799 |
723 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381344414 rs1387873069 |
723 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs967941073 CA224009933 |
724 | S>L | No |
ClinGen TOPMed |
|
rs1002373767 CA224009910 |
725 | A>T | No |
ClinGen TOPMed |
|
rs1252321329 CA381344334 |
725 | A>V | No |
ClinGen gnomAD |
|
CA6103128 rs753282799 |
726 | K>R | No |
ClinGen ExAC gnomAD |
|
rs375853883 CA6103127 |
727 | S>I | No |
ClinGen ESP ExAC |
|
CA224009907 rs375853883 |
727 | S>T | No |
ClinGen ESP ExAC |
|
rs753529001 CA6103125 |
729 | R>* | No |
ClinGen ExAC gnomAD |
|
rs373143339 CA224009900 |
729 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373143339 CA6103124 |
729 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1046610350 CA224009892 |
730 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs35487354 CA6103123 COSM930451 |
730 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs377553569 CA224009886 |
732 | E>K | No |
ClinGen Ensembl |
|
rs767076424 CA6103121 |
734 | P>R | No |
ClinGen ExAC gnomAD |
|
CA6103120 rs201522259 |
735 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6103119 rs369239714 |
735 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs202052634 CA381344118 |
736 | G>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1287608112 CA381343952 |
736 | G>E | No |
ClinGen TOPMed |
|
rs202052634 CA6103117 |
736 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA381343920 rs1481088102 |
738 | T>A | No |
ClinGen gnomAD |
|
rs1237051133 CA381343914 |
738 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs766868287 CA6103101 |
739 | V>I | No |
ClinGen ExAC gnomAD |
|
rs766868287 CA381343910 |
739 | V>L | No |
ClinGen ExAC gnomAD |
|
rs552024637 CA6103100 |
740 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1326549691 CA381343859 |
741 | P>S | No |
ClinGen gnomAD |
|
rs1191605550 CA381343820 |
742 | P>R | No |
ClinGen TOPMed |
|
rs1188793626 CA381343829 |
742 | P>S | No |
ClinGen Ensembl |
|
COSM1355981 CA381343802 rs1409843441 |
743 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA6103097 rs762717646 |
743 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103098 rs762717646 |
743 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381343745 rs1382252887 |
745 | T>I | No |
ClinGen TOPMed |
|
rs376714195 CA6103094 |
747 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1355980 rs569473618 CA6103093 |
747 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA381343725 rs569473618 |
747 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6103092 rs372545474 |
748 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA224009067 rs372545474 |
748 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs148864387 CA6103091 |
749 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA224009047 rs148864387 |
749 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1419706686 CA381343669 |
750 | P>L | No |
ClinGen gnomAD |
|
rs1161465365 CA381343672 |
750 | P>S | No |
ClinGen gnomAD |
|
rs1310728192 CA381343625 |
751 | G>D | No |
ClinGen TOPMed |
|
CA381343613 rs1590852367 |
752 | T>P | No |
ClinGen Ensembl |
|
rs1244127009 CA381343517 |
757 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA6103088 rs147829902 COSM1214389 |
757 | R>H | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA381343484 rs1270507044 |
758 | S>L | No |
ClinGen gnomAD |
|
CA224009004 rs560632256 |
760 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs1590852317 CA381343422 |
761 | L>P | No |
ClinGen Ensembl |
|
rs756551018 CA6103086 |
763 | L>F | No |
ClinGen ExAC gnomAD |
|
CA6103085 rs750035582 |
766 | R>* | No |
ClinGen ExAC gnomAD |
|
CA6103084 rs780952481 |
766 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs11541016 CA224008983 |
767 | P>L | No |
ClinGen Ensembl |
|
CA381343295 rs1390785873 |
768 | R>Q | No |
ClinGen gnomAD |
|
CA381343298 rs1432543023 |
768 | R>W | No |
ClinGen gnomAD |
|
CA6103083 rs756714986 |
769 | P>H | No |
ClinGen ExAC |
|
CA6103082 rs751118360 |
770 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1163029839 CA381343223 |
771 | P>L | No |
ClinGen gnomAD |
|
CA381343256 rs1367934205 |
771 | P>T | No |
ClinGen gnomAD |
|
rs747830130 CA224008962 |
772 | L>F | No |
ClinGen Ensembl |
|
CA6103081 rs763537644 |
773 | R>C | No |
ClinGen ExAC gnomAD |
|
rs1386032470 CA381343181 |
773 | R>H | No |
ClinGen gnomAD |
|
rs1448005729 CA381343124 |
774 | S>I | No |
ClinGen gnomAD |
|
rs762840511 CA6103080 |
775 | R>C | No |
ClinGen ExAC gnomAD |
|
rs752639569 CA6103079 |
775 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1263148067 CA381342943 |
778 | P>A | No |
ClinGen gnomAD |
|
rs1565141260 CA381342790 |
781 | F>C | No |
ClinGen Ensembl |
|
CA381342639 rs1425836523 |
783 | S>L | No |
ClinGen TOPMed |
|
rs773304406 CA6103076 |
785 | G>E | No |
ClinGen ExAC gnomAD |
|
CA6103074 rs761774934 |
787 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772378784 CA6103075 |
787 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6103073 rs774438025 |
788 | P>L | No |
ClinGen ExAC gnomAD |
|
CA381342434 rs1359522449 |
790 | P>A | No |
ClinGen gnomAD |
|
rs925717245 CA224008916 |
790 | P>R | No |
ClinGen TOPMed |
|
CA6103070 rs780716514 |
794 | P>A | No |
ClinGen ExAC gnomAD |
|
rs373649447 CA224008906 |
796 | P>L | No |
ClinGen ESP |
|
rs1277325090 CA381342142 |
797 | A>S | No |
ClinGen TOPMed |
|
rs1380818233 CA381342110 |
797 | A>V | No |
ClinGen TOPMed |
|
rs746307972 CA6103068 |
798 | P>S | No |
ClinGen ExAC gnomAD |
|
CA6103067 rs375614171 |
799 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6103066 rs756887799 |
799 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1433123930 CA381342003 |
800 | R>* | No |
ClinGen TOPMed gnomAD |
|
rs751204773 CA6103065 |
800 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777274087 CA6103064 |
802 | P>L | No |
ClinGen ExAC gnomAD |
|
rs757921400 CA6103063 |
804 | T>P | No |
ClinGen ExAC gnomAD |
|
CA381341719 rs1203892287 |
807 | P>L | No |
ClinGen TOPMed |
|
rs759296633 CA6103060 |
809 | S>* | No |
ClinGen ExAC gnomAD |
|
CA6103057 rs762054182 |
810 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1474417339 CA381341293 |
816 | P>L | No |
ClinGen TOPMed |
|
rs1406876432 CA381341274 |
817 | P>L | No |
ClinGen gnomAD |
|
CA381341260 rs1307709692 |
819 | N>D | No |
ClinGen gnomAD |
|
CA6103054 rs763179055 |
820 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1372574239 CA381341132 |
822 | Q>* | No |
ClinGen gnomAD |
|
rs1488862929 CA381341125 |
822 | Q>P | No |
ClinGen Ensembl |
|
CA6103053 rs758537099 |
823 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA381341056 rs1168871573 |
823 | G>W | No |
ClinGen gnomAD |
|
CA381341028 rs1376468437 |
824 | G>S | No |
ClinGen gnomAD |
|
rs1178833565 CA381341016 |
824 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA6103052 rs770461213 |
825 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1483834657 CA381340993 |
826 | Q>* | No |
ClinGen TOPMed gnomAD |
|
rs968279036 CA224008813 |
826 | Q>L | No |
ClinGen Ensembl |
|
CA6103050 rs781581951 |
827 | D>H | No |
ClinGen ExAC gnomAD |
|
CA381340934 rs1260028893 |
828 | C>S | No |
ClinGen gnomAD |
|
rs147700629 CA6103049 |
830 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381340765 rs1224018565 |
833 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA381340762 rs1324431117 |
833 | K>R | No |
ClinGen gnomAD |
|
CA6103047 rs777460184 |
836 | G>C | No |
ClinGen ExAC gnomAD |
|
rs1229218887 CA381340629 |
837 | A>T | No |
ClinGen Ensembl |
|
rs1337781168 CA381340609 |
837 | A>V | No |
ClinGen gnomAD |
|
CA381340592 rs368733999 |
838 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
rs368733999 CA6103046 |
838 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
CA6103045 rs373717045 |
840 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA381340537 rs1220236268 |
840 | P>S | No |
ClinGen TOPMed |
|
rs996449396 CA224008730 |
841 | W>C | No |
ClinGen Ensembl |
|
CA381340474 rs1270916302 |
841 | W>R | No |
ClinGen TOPMed |
|
rs753749962 CA6103042 |
843 | P>L | No |
ClinGen ExAC gnomAD |
No associated diseases with Q16584
6 regional properties for Q16584
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 117 - 379 | IPR000719 |
domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 117 - 376 | IPR001245 |
domain | SH3 domain | 41 - 105 | IPR001452 |
active_site | Serine/threonine-protein kinase, active site | 237 - 249 | IPR008271 |
binding_site | Protein kinase, ATP binding site | 123 - 144 | IPR017441 |
domain | MLK1-3, SH3 domain | 45 - 102 | IPR035779 |
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.25 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | PTHR23257 | SERINE-THREONINE PROTEIN KINASE |
PANTHER Subfamily | PTHR23257:SF757 | MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE |
PANTHER Protein Class |
non-receptor serine/threonine protein kinase
protein modifying enzyme |
|
PANTHER Pathway Category | No pathway information available |
4 GO annotations of cellular component
Name | Definition |
---|---|
centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
12 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
identical protein binding | Binding to an identical protein or proteins. |
JUN kinase kinase kinase activity | Catalysis of the reaction: JNKK + ATP = JNKK phosphate + ADP. This reaction is the phosphorylation and activation of JUN kinase kinases (JNKKs). |
MAP kinase kinase kinase activity | Catalysis of the phosphorylation and activation of a MAP kinase kinase; each MAP kinase kinase can be phosphorylated by any of several MAP kinase kinase kinases. |
mitogen-activated protein kinase kinase binding | Binding to a mitogen-activated protein kinase kinase, a protein that can phosphorylate a MAP kinase. |
mitogen-activated protein kinase kinase kinase binding | Binding to a mitogen-activated protein kinase kinase kinase, a protein that can phosphorylate a MAP kinase kinase. |
protein homodimerization activity | Binding to an identical protein to form a homodimer. |
protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
small GTPase binding | Binding to a small monomeric GTPase. |
11 GO annotations of biological process
Name | Definition |
---|---|
cell cycle G1/S phase transition | The cell cycle process by which a cell in G1 phase commits to S phase. |
cell death | Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). |
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: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell. |
MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
microtubule-based process | Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. |
positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
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 JUN kinase activity | Any process that activates or increases the frequency, rate or extent of JUN kinase activity. |
positive regulation of neuron apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
41 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
A2VDU3 | MAP3K7 | Mitogen-activated protein kinase kinase kinase 7 | Bos taurus (Bovine) | SS |
Q4TVR5 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Bos taurus (Bovine) | PR |
Q3SZJ2 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Bos taurus (Bovine) | PR |
Q6XUX0 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Gallus gallus (Chicken) | PR |
P83104 | Takl1 | Putative mitogen-activated protein kinase kinase kinase 7-like | Drosophila melanogaster (Fruit fly) | PR |
Q95UN8 | slpr | Mitogen-activated protein kinase kinase kinase | Drosophila melanogaster (Fruit fly) | EV |
P00540 | MOS | Proto-oncogene serine/threonine-protein kinase mos | Homo sapiens (Human) | PR |
Q5TCX8 | MAP3K21 | Mitogen-activated protein kinase kinase kinase 21 | Homo sapiens (Human) | PR |
Q6XUX3 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Homo sapiens (Human) | PR |
O43318 | MAP3K7 | Mitogen-activated protein kinase kinase kinase 7 | Homo sapiens (Human) | SS |
Q9NYL2 | MAP3K20 | Mitogen-activated protein kinase kinase kinase 20 | Homo sapiens (Human) | PR |
Q38SD2 | LRRK1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Homo sapiens (Human) | EV |
O43353 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Homo sapiens (Human) | PR |
Q02779 | MAP3K10 | Mitogen-activated protein kinase kinase kinase 10 | Homo sapiens (Human) | SS |
P80192 | MAP3K9 | Mitogen-activated protein kinase kinase kinase 9 | Homo sapiens (Human) | SS |
Q13418 | ILK | Integrin-linked protein kinase | Homo sapiens (Human) | PR |
P04049 | RAF1 | RAF proto-oncogene serine/threonine-protein kinase | Homo sapiens (Human) | EV |
P10398 | ARAF | Serine/threonine-protein kinase A-Raf | Homo sapiens (Human) | PR |
P15056 | BRAF | Serine/threonine-protein kinase B-raf | Homo sapiens (Human) | EV |
Q8NB16 | MLKL | Mixed lineage kinase domain-like protein | Homo sapiens (Human) | EV |
P58801 | Ripk2 | Receptor-interacting serine/threonine-protein kinase 2 | Mus musculus (Mouse) | PR |
Q62073 | Map3k7 | Mitogen-activated protein kinase kinase kinase 7 | Mus musculus (Mouse) | EV |
Q9D2Y4 | Mlkl | Mixed lineage kinase domain-like protein | Mus musculus (Mouse) | SS |
Q9ESL4 | Map3k20 | Mitogen-activated protein kinase kinase kinase 20 | Mus musculus (Mouse) | PR |
P00536 | Mos | Proto-oncogene serine/threonine-protein kinase mos | Mus musculus (Mouse) | PR |
Q66L42 | Map3k10 | Mitogen-activated protein kinase kinase kinase 10 | Mus musculus (Mouse) | SS |
Q3U1V8 | Map3k9 | Mitogen-activated protein kinase kinase kinase 9 | Mus musculus (Mouse) | SS |
Q8VDG6 | Map3k21 | Mitogen-activated protein kinase kinase kinase 21 | Mus musculus (Mouse) | PR |
Q80XI6 | Map3k11 | Mitogen-activated protein kinase kinase kinase 11 | Mus musculus (Mouse) | PR |
P0C8E4 | Map3k7 | Mitogen-activated protein kinase kinase kinase 7 | Rattus norvegicus (Rat) | SS |
D3ZG83 | Map3k10 | Mitogen-activated protein kinase kinase kinase 10 | Rattus norvegicus (Rat) | SS |
P00539 | Mos | Proto-oncogene serine/threonine-protein kinase mos | Rattus norvegicus (Rat) | PR |
Q66HA1 | Map3k11 | Mitogen-activated protein kinase kinase kinase 11 | Rattus norvegicus (Rat) | PR |
Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
Q9FPR3 | EDR1 | Serine/threonine-protein kinase EDR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q2MHE4 | HT1 | Serine/threonine/tyrosine-protein kinase HT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
O22558 | STY8 | Serine/threonine-protein kinase STY8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q8RWL6 | STY17 | Serine/threonine-protein kinase STY17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
F4JTP5 | STY46 | Serine/threonine-protein kinase STY46 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q05609 | CTR1 | Serine/threonine-protein kinase CTR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q67E00 | dstyk | Dual serine/threonine and tyrosine protein kinase | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MEPLKSLFLK | SPLGSWNGSG | SGGGGGGGGG | RPEGSPKAAG | YANPVWTALF | DYEPSGQDEL |
70 | 80 | 90 | 100 | 110 | 120 |
ALRKGDRVEV | LSRDAAISGD | EGWWAGQVGG | QVGIFPSNYV | SRGGGPPPCE | VASFQELRLE |
130 | 140 | 150 | 160 | 170 | 180 |
EVIGIGGFGK | VYRGSWRGEL | VAVKAARQDP | DEDISVTAES | VRQEARLFAM | LAHPNIIALK |
190 | 200 | 210 | 220 | 230 | 240 |
AVCLEEPNLC | LVMEYAAGGP | LSRALAGRRV | PPHVLVNWAV | QIARGMHYLH | CEALVPVIHR |
250 | 260 | 270 | 280 | 290 | 300 |
DLKSNNILLL | QPIESDDMEH | KTLKITDFGL | AREWHKTTQM | SAAGTYAWMA | PEVIKASTFS |
310 | 320 | 330 | 340 | 350 | 360 |
KGSDVWSFGV | LLWELLTGEV | PYRGIDCLAV | AYGVAVNKLT | LPIPSTCPEP | FAQLMADCWA |
370 | 380 | 390 | 400 | 410 | 420 |
QDPHRRPDFA | SILQQLEALE | AQVLREMPRD | SFHSMQEGWK | REIQGLFDEL | RAKEKELLSR |
430 | 440 | 450 | 460 | 470 | 480 |
EEELTRAARE | QRSQAEQLRR | REHLLAQWEL | EVFERELTLL | LQQVDRERPH | VRRRRGTFKR |
490 | 500 | 510 | 520 | 530 | 540 |
SKLRARDGGE | RISMPLDFKH | RITVQASPGL | DRRRNVFEVG | PGDSPTFPRF | RAIQLEPAEP |
550 | 560 | 570 | 580 | 590 | 600 |
GQAWGRQSPR | RLEDSSNGER | RACWAWGPSS | PKPGEAQNGR | RRSRMDEATW | YLDSDDSSPL |
610 | 620 | 630 | 640 | 650 | 660 |
GSPSTPPALN | GNPPRPSLEP | EEPKRPVPAE | RGSSSGTPKL | IQRALLRGTA | LLASLGLGRD |
670 | 680 | 690 | 700 | 710 | 720 |
LQPPGGPGRE | RGESPTTPPT | PTPAPCPTEP | PPSPLICFSL | KTPDSPPTPA | PLLLDLGIPV |
730 | 740 | 750 | 760 | 770 | 780 |
GQRSAKSPRR | EEEPRGGTVS | PPPGTSRSAP | GTPGTPRSPP | LGLISRPRPS | PLRSRIDPWS |
790 | 800 | 810 | 820 | 830 | 840 |
FVSAGPRPSP | LPSPQPAPRR | APWTLFPDSD | PFWDSPPANP | FQGGPQDCRA | QTKDMGAQAP |
WVPEAGP |