Q9P1Z3
SS
Gene name |
HCN3 (KIAA1535) |
Protein name |
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57657 |
EC number |
|
Protein Class |
|
Descriptions
Hyperpolarization-activated cyclic nucleotide-gated (HCN) ion channels contribute to electrical activity in neurons and cardiomyocytes. HCN1-4 share a similar multidomain organization with an N-terminal transmembrane region, a C-terminal intracellular region (IR) and a cyclic nucleotide-binding domain (CBD). Channel opening is primarily stimulated by transmembrane elements that sense membrane hyperpolarization. In the absence of cAMP, the CBD shows steric clashes with the C-linker within IR, which become energetically unfavored. The steric clashes are eliminated by cAMP binding, which selects for a CBD state devoid of steric clashes with the tetrameric C-linker and facilitates channel opening.
Autoinhibitory domains (AIDs)
Target domain |
94-355 (Ion transport domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
94-355 (Ion transport domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Wicks NL et al. (2011) "Cytoplasmic cAMP-sensing domain of hyperpolarization-activated cation (HCN) channels uses two structurally distinct mechanisms to regulate voltage gating", Proceedings of the National Academy of Sciences of the United States of America, 108, 609-14
- Akimoto M et al. (2014) "A mechanism for the auto-inhibition of hyperpolarization-activated cyclic nucleotide-gated (HCN) channel opening and its relief by cAMP", The Journal of biological chemistry, 289, 22205-20
- Xu X et al. (2010) "Structural basis for the cAMP-dependent gating in the human HCN4 channel", The Journal of biological chemistry, 285, 37082-91
Autoinhibited structure
Activated structure
1 structures for Q9P1Z3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9P1Z3-F1 | Predicted | AlphaFoldDB |
660 variants for Q9P1Z3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA342710486 rs1488494996 |
2 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1262231580 CA342710458 |
2 | E>Q | No |
gnomAD ClinGen |
|
|
rs546435595 CA1143327 |
3 | A>E | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA1143328 rs774040232 |
4 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA1143329 rs759463300 |
5 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1143330 rs767365132 |
5 | Q>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs751018628 CA30890800 |
6 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA342710605 rs1418959874 |
6 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs1365842470 CA342710668 |
7 | P>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1157598249 CA342710659 |
7 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1157598249 CA342710640 |
7 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA342710697 rs1420711642 |
8 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA342710688 rs1397586772 |
8 | A>P | No |
ClinGen TOPMed |
|
|
rs1373913799 CA342710960 |
12 | S>G | No |
ClinGen gnomAD |
|
|
rs1416673998 CA342711050 |
14 | G>E | No |
ClinGen gnomAD |
|
|
rs1372735862 CA342711083 |
15 | A>V | No |
ClinGen gnomAD |
|
|
CA1143333 rs765536110 |
17 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs765536110 CA30890811 |
17 | P>R | No |
ExAC gnomAD ClinGen |
|
|
CA30890809 rs996994808 |
17 | P>T | No |
Ensembl ClinGen |
|
|
rs1309069945 CA342711271 |
20 | E>Q | No |
gnomAD ClinGen |
|
|
rs1277714828 CA342711375 |
23 | P>L | No |
gnomAD ClinGen |
|
|
CA342711371 rs1233374707 |
23 | P>T | No |
TOPMed gnomAD ClinGen |
|
|
COSM3979867 rs1210418527 CA342711409 |
25 | V>I | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA342711436 rs1231781084 |
26 | A>S | No |
ClinGen gnomAD |
|
|
CA30890827 rs1010394049 |
26 | A>V | No |
TOPMed ClinGen |
|
|
CA30890831 rs1043350433 |
27 | P>A | No |
TOPMed ClinGen |
|
|
CA342711497 rs758714511 |
28 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1143335 rs758714511 |
28 | P>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1143334 rs750716314 |
28 | P>S | No |
ClinGen ExAC |
|
|
CA1143336 rs780507850 |
29 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539174603 CA1143337 |
30 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1426994341 CA342711555 |
32 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs576676568 CA1143338 |
32 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1436775786 CA342711610 |
34 | S>* | No |
gnomAD ClinGen |
|
|
CA30890919 rs1001641388 |
36 | P>A | No |
TOPMed gnomAD ClinGen |
|
|
CA342711699 rs1355670698 |
37 | I>V | No |
ClinGen TOPMed |
|
|
CA30890925 rs970738843 |
39 | K>E | No |
ClinGen Ensembl |
|
|
rs535621096 CA1143341 |
39 | K>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA342711790 rs1399008587 |
39 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 40 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342711866 rs1377603720 |
41 | G>E | No |
ClinGen gnomAD |
|
|
rs1287478521 CA342711896 |
42 | P>L | No |
TOPMed ClinGen |
|
|
CA1143342 rs772742057 |
42 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs770586677 CA1143344 |
43 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA1143343 rs748893909 |
43 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA1143345 rs543806306 |
44 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1143346 rs759316385 |
45 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs201299118 CA1143347 |
46 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1143348 rs529302855 |
48 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342712160 rs1404272214 |
49 | L>P | No |
ClinGen TOPMed |
|
|
rs750061281 CA30890971 |
50 | G>R | No |
ClinGen Ensembl |
|
|
rs1251450769 CA342712244 |
51 | T>K | No |
ClinGen gnomAD |
|
|
rs1436444596 CA342712216 |
51 | T>S | No |
ClinGen gnomAD |
|
|
rs1191975047 CA342712268 |
52 | L>M | No |
ClinGen gnomAD |
|
|
rs765357805 CA1143350 |
53 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342712387 rs1172977143 |
55 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750542596 CA1143351 |
56 | T>M | No |
ExAC gnomAD ClinGen |
|
|
rs369490854 CA1143353 |
59 | K>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1143352 rs758626432 |
59 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs755344667 CA1143355 |
62 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748561252 CA1143357 |
64 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1143360 rs748804347 |
66 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs777210946 CA1143359 |
66 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA342712782 rs777210946 |
66 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs931272117 CA30891013 |
68 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs201860113 CA30891014 |
69 | K>E | No |
TOPMed gnomAD ClinGen |
|
|
rs61812063 CA1143361 |
69 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1241718805 CA342713050 |
70 | A>P | No |
ClinGen gnomAD |
|
|
CA30891016 rs886805022 |
75 | Q>* | No |
ClinGen gnomAD |
|
|
CA1143363 rs745655638 |
75 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
rs771805071 CA30891025 |
77 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771805071 CA1143364 |
77 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1474929424 CA342713315 |
77 | R>W | No |
ClinGen gnomAD |
|
|
CA1143365 rs775388459 |
78 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1143367 rs768715446 |
81 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA342713576 rs1330892388 |
82 | G>E | No |
TOPMed ClinGen |
|
|
CA30891043 rs975158910 |
83 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1474260506 CA342713621 |
84 | W>* | No |
ClinGen gnomAD |
|
|
CA1143371 rs751769198 |
84 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs921918380 CA30891049 |
84 | W>R | No |
TOPMed ClinGen |
|
|
CA342713712 rs1164607941 |
86 | I>N | No |
ClinGen gnomAD |
|
|
CA342713735 rs1291941146 |
87 | H>L | No |
ClinGen gnomAD |
|
|
rs767727080 CA1143373 |
88 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1143372 rs570610522 |
88 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342714129 rs1219003038 |
93 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA342716916 rs1270766848 |
100 | M>I | No |
ClinGen gnomAD |
|
|
CA30893187 rs754113276 |
103 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA342717064 rs1199225953 |
104 | M>L | No |
ClinGen gnomAD |
|
|
rs1252076730 CA342717161 |
105 | V>A | No |
ClinGen gnomAD |
|
|
CA1143404 rs141019470 |
105 | V>M | No |
ClinGen 1000Genomes ExAC |
|
|
CA342717205 rs1452359324 |
106 | G>E | No |
ClinGen gnomAD |
|
|
rs960904131 CA30893193 |
106 | G>R | No |
TOPMed ClinGen |
|
|
rs971710679 CA30893195 |
110 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA342717499 rs1401874169 |
112 | P>L | No |
gnomAD ClinGen |
|
|
rs1165703315 CA342717480 |
112 | P>T | No |
gnomAD ClinGen |
|
|
CA30893206 rs775743272 |
119 | K>N | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs774853370 | 121 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1143413 rs764405079 |
122 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342717941 rs1382608255 |
123 | S>F | No |
ClinGen TOPMed |
|
|
rs762157163 CA1143415 |
127 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA342718096 rs1219107532 |
128 | V>A | No |
ClinGen gnomAD |
|
|
rs1219107532 CA342718092 |
128 | V>D | No |
ClinGen gnomAD |
|
|
rs765836236 CA1143416 |
128 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA342718157 rs1553227785 |
130 | N>S | No |
ClinGen Ensembl |
|
|
rs1466970808 CA342718161 |
131 | V>I | No |
gnomAD ClinGen |
|
|
CA1143418 rs757971773 |
132 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1446018131 CA342718279 |
135 | T>S | No |
ClinGen gnomAD |
|
|
CA1143419 rs766097977 |
136 | F>C | No |
ExAC gnomAD ClinGen |
|
|
CA1143420 rs751215604 |
140 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754698524 CA1143421 |
142 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA30893239 rs143660999 |
144 | N>D | No |
ClinGen ESP TOPMed |
|
|
rs1172005432 CA342718540 |
144 | N>S | No |
ClinGen gnomAD |
|
|
CA1143422 rs781074367 |
147 | T>M | No |
ExAC gnomAD ClinGen |
|
|
rs756003377 CA1143424 |
149 | I>M | No |
ExAC gnomAD ClinGen |
|
|
CA342718981 rs1296599915 |
154 | G>V | No |
gnomAD ClinGen |
|
|
rs1400765034 CA342719048 |
156 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 158 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342719134 rs1319907303 |
160 | A>V | No |
ClinGen gnomAD |
|
|
rs775582089 CA1143428 |
161 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA30893272 rs34277242 |
162 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1143431 rs532768491 |
162 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1143430 rs34277242 COSM675774 |
162 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs762293040 CA342719190 |
163 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs762293040 CA1143432 |
163 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs748591685 CA1143433 |
165 | R>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs773805653 CA30893296 |
165 | R>H | No |
ExAC gnomAD ClinGen |
|
|
CA1143434 rs773805653 |
165 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA1143435 rs763400924 |
166 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1143436 rs765937571 |
166 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs550961408 COSM424044 CA1143437 |
167 | R>C | Variant assessed as Somatic; 4.62e-05 impact. breast [NCI-TCGA, Cosmic] | No |
1000Genomes ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs374622488 CA342719353 COSM1639525 |
167 | R>H | Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] | No |
ESP TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs374622488 CA30893314 |
167 | R>L | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA1143438 rs759916758 |
168 | Y>* | No |
ExAC ClinGen |
|
|
rs1557946636 CA342719373 |
168 | Y>H | No |
Ensembl ClinGen |
|
|
CA342719543 rs1400668612 |
171 | T>I | No |
ClinGen gnomAD |
|
|
rs1312303241 CA342719594 |
172 | W>S | No |
gnomAD ClinGen |
|
|
rs367672217 CA30893327 |
173 | F>S | No |
ESP TOPMed ClinGen |
|
|
CA342719795 rs1377114587 |
176 | D>E | No |
ClinGen gnomAD |
|
|
rs201860832 CA1143439 |
177 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1143441 rs752422015 |
181 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs371461301 CA30893329 |
181 | I>V | No |
ClinGen ESP gnomAD |
|
|
rs755986615 CA1143442 |
183 | V>M | No |
ExAC gnomAD ClinGen |
|
|
rs1264251085 CA342720042 |
184 | D>Y | No |
TOPMed ClinGen |
|
| TCGA novel | 185 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557946712 CA342720096 |
186 | I>V | No |
ClinGen Ensembl |
|
|
CA30893333 rs987239148 |
187 | F>L | No |
TOPMed gnomAD ClinGen |
|
|
CA342720314 rs1161068851 |
191 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1483953537 CA342720288 |
191 | E>K | No |
gnomAD ClinGen |
|
|
CA342720344 rs1269895541 |
193 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 193 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1143445 rs757211906 |
195 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
CA1143444 rs373947209 |
195 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780053299 CA1143446 |
200 | V>I | No |
ExAC gnomAD ClinGen |
|
|
CA342720698 rs1177214353 |
201 | Y>C | No |
gnomAD ClinGen |
|
|
CA342720663 rs1328361786 |
201 | Y>H | No |
TOPMed ClinGen |
|
|
rs1420499554 CA342720819 |
204 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs376362078 CA1143450 |
205 | R>Q | No |
ESP ExAC gnomAD ClinGen |
|
|
CA1143449 rs771587960 |
205 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1158544264 CA342720902 |
206 | A>D | No |
ClinGen gnomAD |
|
|
CA342720913 rs1338598823 |
207 | L>V | No |
TOPMed ClinGen |
|
|
CA1143451 rs770156011 |
209 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1143452 rs773470248 |
210 | V>F | No |
ExAC gnomAD ClinGen |
|
|
COSM261227 rs1572037611 CA342721046 |
211 | R>C | large_intestine [Cosmic] | No |
Ensembl ClinGen cosmic curated |
|
COSM896862 CA1143453 rs763457688 |
211 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs763457688 CA1143454 |
211 | R>P | No |
ExAC gnomAD ClinGen |
|
|
rs1298815702 CA342721058 |
212 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1418149433 CA342721171 |
215 | I>F | No |
ClinGen TOPMed |
|
|
rs759177173 CA1143456 |
215 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs1383326173 CA342721310 |
219 | L>P | No |
ClinGen gnomAD |
|
|
rs767257749 CA1143457 |
220 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1197340560 CA342721470 |
223 | R>C | No |
gnomAD ClinGen |
|
|
CA30893418 rs1017947509 |
225 | S>P | No |
ClinGen Ensembl |
|
|
CA30893421 rs751047319 |
226 | R>C | No |
gnomAD ClinGen |
|
|
CA1143461 rs753591594 |
228 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA30893439 rs904681445 |
229 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA30893437 rs904681445 |
229 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs757122307 CA1143462 |
229 | R>P | No |
ExAC gnomAD ClinGen |
|
|
CA342721706 rs778877301 CA1143463 |
230 | Y>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1372608684 CA342721782 |
231 | I>T | No |
gnomAD ClinGen |
|
|
CA1143464 rs751613252 |
232 | H>Y | No |
ExAC gnomAD ClinGen |
|
|
rs1053759494 CA30893451 |
234 | W>* | No |
ClinGen Ensembl |
|
|
CA342722000 rs1557946942 |
234 | W>C | No |
ClinGen Ensembl |
|
|
rs372652695 CA1143477 |
237 | I>F | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA342723808 rs1206125718 |
240 | M>I | No |
ClinGen TOPMed |
|
|
CA342723889 rs1323892007 |
243 | D>E | No |
ClinGen gnomAD |
|
|
CA342723883 rs1344517486 |
243 | D>Y | No |
ClinGen TOPMed |
|
|
CA1143480 rs753651072 |
247 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1143481 rs761642949 |
250 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1487332978 CA342724055 |
250 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
CA342724061 rs1244924132 |
251 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs765123608 CA1143482 |
253 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750317134 CA1143483 |
254 | L>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1009962601 CA30894226 |
254 | L>R | No |
TOPMed ClinGen |
|
|
rs150455097 CA1143484 |
255 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA342724377 rs1441547659 |
258 | M>T | No |
ClinGen gnomAD |
|
|
CA30894241 rs980342212 |
263 | H>Y | No |
TOPMed ClinGen |
|
|
CA342724611 rs1572039148 |
264 | W>R | No |
ClinGen Ensembl |
|
|
CA342724667 rs749649500 |
265 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1143489 rs749649500 |
265 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1143490 rs757736075 |
272 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA30894251 rs532857443 |
275 | L>P | No |
ClinGen gnomAD |
|
|
rs1439755017 CA342725298 |
279 | P>L | No |
gnomAD ClinGen |
|
|
CA342725301 rs1381788173 |
280 | P>A | No |
ClinGen gnomAD |
|
|
rs1381788173 CA342725302 |
280 | P>S | No |
ClinGen gnomAD |
|
|
rs368797420 CA1143492 |
281 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342725395 rs1351721953 |
282 | C>Y | No |
ClinGen gnomAD |
|
|
CA1143493 rs532168007 |
283 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1143494 rs373380091 |
286 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746570449 CA1143495 |
289 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs149206824 CA30894276 |
290 | V>M | No |
ClinGen ESP gnomAD |
|
|
COSM74873 CA1143511 rs746241919 |
293 | S>L | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1333592164 CA342726072 |
295 | G>C | No |
TOPMed gnomAD ClinGen |
|
|
CA342726034 rs1333592164 |
295 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
CA1143513 rs780471817 |
296 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1143514 COSM1319915 rs137875525 |
296 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA30894410 rs974748729 |
297 | Q>R | No |
ClinGen Ensembl |
|
|
CA342726305 rs1331278603 |
300 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs768007362 CA1143515 |
303 | F>L | No |
ExAC ClinGen |
|
|
rs1329757959 CA342726472 |
305 | A>S | No |
ClinGen gnomAD |
|
|
rs1368049658 CA342726503 |
306 | M>V | No |
Ensembl ClinGen |
|
|
rs1446074311 CA342726565 |
307 | S>G | No |
gnomAD ClinGen |
|
|
CA342726576 rs1312592099 |
307 | S>N | No |
ClinGen TOPMed |
|
|
rs1276618939 CA342726706 |
311 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1217920428 CA342726768 |
314 | Y>C | No |
gnomAD ClinGen |
|
|
rs200640848 CA1143518 |
318 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 319 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772984300 CA1143519 |
319 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA342726959 rs1199090432 |
320 | V>A | No |
gnomAD ClinGen |
|
|
rs770879988 CA1143521 |
321 | G>D | No |
ExAC gnomAD ClinGen |
|
|
rs759549127 CA1143523 |
324 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1143525 rs753984470 |
325 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA342727162 rs753984470 |
325 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1143526 rs199623311 |
326 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750808091 CA1143528 |
329 | M>V | No |
ExAC gnomAD ClinGen |
|
|
CA1143529 rs758727563 |
330 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs145898092 CA1143531 |
333 | I>V | No |
ClinGen ESP ExAC |
|
| TCGA novel | 334 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61749584 CA1143533 |
334 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342727638 rs1276199616 |
338 | C>W | No |
TOPMed gnomAD ClinGen |
|
|
rs769421049 CA1143535 |
339 | Y>S | No |
ExAC gnomAD ClinGen |
|
|
rs749080461 CA1143537 |
340 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA1143538 rs575123350 |
341 | M>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA342727919 rs1487659268 |
344 | G>S | No |
ClinGen gnomAD |
|
|
CA1143540 rs759336992 |
345 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264738812 CA342728108 |
347 | T>M | No |
TOPMed gnomAD ClinGen |
|
|
COSM896863 rs776848448 CA1143542 |
348 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs762045172 CA1143543 |
349 | L>F | No |
ExAC gnomAD ClinGen |
|
|
CA1143545 rs750567790 |
354 | D>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA30894464 rs867202160 |
356 | S>F | No |
ClinGen Ensembl |
|
|
CA1143547 rs373629691 |
357 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370091278 CA1143546 |
357 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs143563039 CA30894465 |
358 | R>C | No |
ClinGen ESP TOPMed |
|
|
rs201556891 CA30894466 |
358 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs751957006 CA1143548 |
359 | Q>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs755472158 CA342728800 |
361 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767979521 COSM1498614 CA1143567 |
365 | K>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs372143157 CA1143571 |
369 | Q>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA342729377 rs1253762512 |
369 | Q>H | No |
gnomAD ClinGen |
|
|
rs756858097 CA1143572 |
371 | M>I | No |
ExAC gnomAD ClinGen |
|
|
rs1019855515 CA30894730 |
372 | S>Y | No |
Ensembl ClinGen |
|
|
rs1206127813 CA342729602 |
373 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1369129589 CA342729639 |
374 | H>Q | No |
ClinGen TOPMed |
|
|
rs1244067268 CA342729679 |
375 | K>R | No |
ClinGen gnomAD |
|
|
rs1189663495 CA342729746 |
378 | A>G | No |
TOPMed ClinGen |
|
|
rs1176999587 CA342729789 |
380 | T>A | No |
ClinGen gnomAD |
|
|
rs778690238 CA342729792 |
380 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1143573 rs778690238 |
380 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1143576 rs780013075 |
381 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs758224268 CA1143575 |
381 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342729910 rs1467465262 |
382 | Q>* | No |
gnomAD ClinGen |
|
|
CA30894750 rs546034164 |
383 | R>C | No |
ClinGen Ensembl |
|
|
rs141108222 CA1143578 |
383 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs141108222 CA342729949 |
383 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs141108222 CA1143577 |
383 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201298503 CA1143580 |
386 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1210981484 CA342730163 |
388 | Y>H | No |
ClinGen gnomAD |
|
|
CA1143582 rs774674306 |
391 | R>C | No |
ExAC gnomAD ClinGen |
|
|
CA1143583 rs774674306 |
391 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA1143584 rs377208322 |
391 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs895568066 CA30894778 |
392 | Y>H | No |
TOPMed ClinGen |
|
|
rs1410886921 CA342730378 |
392 | Y>S | No |
ClinGen TOPMed |
|
|
CA342730427 rs1321908934 |
393 | Q>R | No |
ClinGen TOPMed |
|
|
CA30894782 rs1014046801 |
394 | G>A | No |
TOPMed gnomAD ClinGen |
|
|
rs1014046801 CA342730514 |
394 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs146894220 CA1143586 |
395 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867092241 CA30894823 |
396 | M>I | No |
ClinGen TOPMed |
|
|
rs200186877 CA1143588 |
398 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs200186877 CA1143589 |
398 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs928518548 CA30894854 |
404 | G>R | No |
Ensembl ClinGen |
|
|
rs1481497043 CA1143593 |
405 | E>* | No |
gnomAD ClinGen |
|
|
rs1481497043 CA342730976 |
405 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA1143596 rs779925172 |
406 | L>R | No |
ClinGen ExAC |
|
|
rs758132548 CA1143595 |
406 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs754857225 CA1143598 |
407 | S>G | No |
ExAC gnomAD ClinGen |
|
|
rs1016833405 CA30894886 |
407 | S>N | No |
TOPMed ClinGen |
|
|
CA1143599 rs754857225 |
407 | S>R | No |
ExAC gnomAD ClinGen |
|
|
rs201786360 CA1143600 CA1143602 |
407 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1354900369 CA342731118 |
408 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
rs772287358 CA1143604 |
409 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs1273469163 CA342731196 |
410 | L>V | No |
TOPMed ClinGen |
|
|
CA1143606 rs370145616 |
411 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC gnomAD ClinGen NCI-TCGA |
|
rs370145616 CA342731241 |
411 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs112470069 CA1143607 |
411 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1143608 rs112470069 |
411 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs112470069 CA342731242 |
411 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1143611 rs749955729 |
412 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 414 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770268384 CA1143631 |
414 | I>N | No |
ExAC gnomAD ClinGen |
|
|
CA1143632 rs772832771 |
415 | I>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1143633 rs772832771 |
415 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1143637 rs759132143 |
419 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893819521 CA342732753 |
420 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs893819521 CA30895270 |
420 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs576680898 CA1143638 |
420 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752440221 CA1143639 |
421 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1009948050 CA30895277 |
424 | A>V | No |
Ensembl ClinGen |
|
|
CA342732889 rs1386897522 |
425 | H>Y | No |
ClinGen gnomAD |
|
|
CA1143640 rs143562699 CA342732927 |
426 | M>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs777747988 CA342732956 |
427 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750482495 CA1143642 |
427 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs750482495 CA1143643 |
427 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1143641 rs777747988 |
427 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1143644 rs372807362 |
431 | H>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA342733137 rs1447982118 |
433 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
rs1301390333 CA342733273 |
435 | S>G | No |
ClinGen gnomAD |
|
|
CA342733367 rs1308889940 |
437 | V>D | No |
ClinGen gnomAD |
|
|
CA342733379 rs1308889940 |
437 | V>G | No |
gnomAD ClinGen |
|
|
rs755154997 COSM896865 CA1143646 |
437 | V>I | endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA342733415 rs1225587100 |
438 | T>S | No |
ClinGen gnomAD |
|
|
rs781614213 CA1143647 |
440 | V>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA342733537 rs748516371 |
441 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1143648 rs748516371 |
441 | L>I | No |
ExAC gnomAD ClinGen |
|
|
CA1143649 rs770400191 |
443 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146290600 CA1143652 COSM363034 |
445 | R>C | lung [Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA1143653 rs774012679 |
445 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146290600 CA342733681 |
445 | R>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1414342689 CA342733905 |
449 | F>L | No |
gnomAD ClinGen |
|
|
CA1143655 rs144344896 |
451 | P>L | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA1143656 rs144344896 |
451 | P>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs766304944 CA30895326 |
454 | L>F | No |
ClinGen Ensembl |
|
|
CA342734116 rs753739215 |
455 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs753739215 CA1143659 |
455 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1143661 rs766375702 |
457 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA342734204 rs766375702 |
457 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751653131 CA1143662 |
457 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1143663 rs755211130 |
458 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1264968813 CA342734282 |
458 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1143665 rs114620093 |
461 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756505845 CA1143666 |
464 | K>E | No |
ExAC gnomAD ClinGen |
|
|
CA1143667 rs778304407 |
464 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1143668 rs141817871 |
465 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342734710 rs1245611700 |
465 | M>L | No |
ClinGen gnomAD |
|
|
rs771569229 CA1143669 |
467 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA30895349 rs755109897 |
468 | I>L | No |
ClinGen Ensembl |
|
|
rs1170365572 CA342734868 |
468 | I>T | No |
ClinGen gnomAD |
|
|
rs773908124 CA342734955 |
470 | H>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA342735022 rs1411813665 |
471 | G>A | No |
ClinGen gnomAD |
|
|
CA1143671 rs745428911 |
473 | L>V | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 474 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330559042 CA342735109 |
474 | S>R | No |
ClinGen gnomAD |
|
|
rs1396236358 CA342735158 |
474 | S>R | No |
gnomAD ClinGen |
|
|
CA30895355 rs908204975 |
474 | S>T | No |
TOPMed gnomAD ClinGen |
|
|
rs151135773 CA1143672 |
475 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1246707221 CA342735260 |
476 | L>R | No |
TOPMed ClinGen |
|
|
rs976486479 CA30895360 |
478 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs200412337 CA1143674 |
478 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA30895367 rs1054048153 |
479 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
CA30895371 rs915437409 |
480 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1143678 rs765213576 |
481 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs137971983 RCV000593593 CA1143677 |
481 | R>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1481013353 CA342735462 |
482 | D>E | No |
gnomAD ClinGen |
|
|
rs906530106 CA30895376 |
482 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs906530106 CA342735428 |
482 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA342735459 rs1572042126 |
482 | D>V | No |
ClinGen Ensembl |
|
|
rs1003605187 CA30895379 |
483 | T>K | No |
ClinGen Ensembl |
|
|
CA1143679 rs751634062 |
484 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1143681 rs767665226 |
484 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1143680 rs751634062 |
484 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752812417 CA1143682 |
485 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs756418092 CA1143683 |
486 | T>S | No |
ExAC gnomAD ClinGen |
|
|
CA1143685 rs754322366 |
487 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1366286481 CA342735703 |
489 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA342735844 rs1399307882 |
491 | F>S | No |
gnomAD ClinGen |
|
|
rs1327947890 CA342735900 |
493 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 494 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 494 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30895845 rs922447856 |
498 | T>N | No |
gnomAD ClinGen |
|
|
rs1212502430 CA342736735 |
498 | T>S | No |
ClinGen TOPMed |
|
|
CA342736755 rs12402606 |
499 | R>K | No |
gnomAD ClinGen |
|
|
CA30895847 rs12402606 |
499 | R>M | No |
gnomAD ClinGen |
|
|
CA1143705 rs369007284 |
501 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs931531090 CA30895853 |
501 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA30895851 COSM215470 rs369007284 |
501 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA342736909 rs1439331787 |
502 | R>C | No |
ClinGen gnomAD |
|
|
CA342737041 rs1156927867 |
504 | A>V | No |
gnomAD ClinGen |
|
|
rs758961759 CA1143707 |
505 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs746576195 CA342737152 |
507 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
COSM424046 rs112049548 CA1143710 |
507 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs746576195 CA1143709 |
507 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1143711 rs146467190 |
511 | Y>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs946623627 CA30895864 |
513 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA1143712 rs765497777 COSM896866 |
513 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1143713 rs769425868 |
516 | S>L | No |
ExAC gnomAD ClinGen |
|
|
CA342737726 rs1240352865 |
517 | L>F | No |
gnomAD ClinGen |
|
|
rs141800759 CA342737797 |
518 | S>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs141800759 CA1143714 |
518 | S>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs770967873 CA1143716 |
519 | V>A | No |
ExAC ClinGen |
|
|
rs1205907844 CA342737817 |
519 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
rs775699845 CA1143718 |
521 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764382725 CA1143719 |
521 | H>Q | No |
ExAC gnomAD ClinGen |
|
|
rs775699845 CA1143717 |
521 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs373324806 CA1143720 |
523 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1252726141 CA342738072 |
525 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1143721 rs762121064 |
528 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342738273 rs1198069307 |
530 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 530 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199859586 CA1143723 |
531 | M>I | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1056120232 CA342738312 |
531 | M>K | No |
ClinGen Ensembl |
|
|
rs1056120232 CA30895892 |
531 | M>T | No |
ClinGen Ensembl |
|
|
rs200927035 CA1143722 |
531 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1012383857 COSM1295171 CA30895895 |
533 | R>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA1143724 rs201531495 |
533 | R>H | Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA] | No |
1000Genomes ExAC gnomAD ClinGen NCI-TCGA |
|
CA1143725 rs201531495 |
533 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1143727 rs41264937 |
534 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751035994 CA1143726 |
534 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA342738499 rs1371825951 |
535 | A>T | No |
TOPMed ClinGen |
|
|
CA342738620 rs1472547334 |
537 | E>D | No |
ClinGen Ensembl |
|
|
CA1143728 rs369702343 |
538 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1143730 rs758765081 |
541 | M>T | No |
ExAC gnomAD ClinGen |
|
|
rs1385790782 CA342738835 |
541 | M>V | No |
gnomAD ClinGen |
|
|
rs1344811238 CA342738939 |
542 | D>N | No |
TOPMed ClinGen |
|
|
CA1143733 rs770752686 |
543 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA30895921 rs770752686 |
543 | R>Q | No |
ExAC gnomAD ClinGen |
|
|
CA1143732 rs144688517 |
543 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA342739052 rs1202654800 |
545 | L>V | No |
ClinGen gnomAD |
|
|
CA1143734 rs774471370 |
546 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs745834184 CA1143735 |
546 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776866836 CA342739159 |
547 | I>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1143736 rs373228846 |
547 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1143739 rs376249401 |
548 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1313277991 CA342740880 |
549 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs150647933 CA1143761 |
550 | K>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1143762 rs768079554 |
552 | S>Y | No |
ExAC gnomAD ClinGen |
|
|
COSM896868 CA342740993 rs1315015251 |
553 | I>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA342741057 rs1242463030 |
555 | Q>R | No |
ClinGen gnomAD |
|
|
CA342741075 rs139768739 |
556 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1143764 rs139768739 |
556 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1143763 rs752117363 |
556 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs563414640 CA1143766 |
558 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs756971954 CA1143767 |
558 | R>H | Variant assessed as Somatic; 4.696e-05 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs756971954 CA30897664 |
558 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979332694 CA30897667 |
559 | S>P | No |
Ensembl ClinGen |
|
|
CA1143769 rs140216218 |
560 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780192965 CA1143771 |
561 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs200363899 CA1143772 |
562 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA30897698 rs991827266 |
564 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1335159897 CA342741338 |
566 | S>G | No |
ClinGen gnomAD |
|
|
CA1143773 rs769880328 |
567 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA342741422 rs1453694786 |
568 | G>D | No |
TOPMed gnomAD ClinGen |
|
|
rs1248348670 CA342741475 |
569 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1143774 rs777721982 |
569 | I>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1278983085 CA342741442 |
569 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768588337 CA1143775 |
570 | M>T | No |
ExAC gnomAD ClinGen |
|
|
rs145399614 CA1143776 |
573 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774694361 CA1143777 |
576 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA342741894 CA342741890 rs1198354258 |
578 | D>E | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 579 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342741897 rs1557951628 |
579 | R>K | No |
ClinGen Ensembl |
|
|
rs78333507 CA30897705 |
581 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs78333507 CA1143778 |
581 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342742012 rs1264771174 |
582 | A>D | No |
gnomAD ClinGen |
|
| TCGA novel | 582 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1143780 rs776015753 |
583 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1143781 rs776015753 |
583 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs142508382 CA1143779 |
583 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30897713 rs765672361 |
586 | R>P | No |
TOPMed gnomAD ClinGen |
|
|
CA30897712 rs765672361 |
586 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1413271531 CA342742111 |
586 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
rs1174679925 CA342742155 |
587 | G>D | No |
gnomAD ClinGen |
|
|
CA1143786 rs148893391 |
588 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1143785 rs547306239 |
588 | R>W | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA342742216 rs1444524437 |
589 | A>D | No |
TOPMed gnomAD ClinGen |
|
|
CA342742210 rs1444524437 COSM1717621 |
589 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated |
|
rs779748109 CA1143788 |
590 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342742312 rs1375348198 |
591 | S>R | No |
ClinGen TOPMed |
|
|
CA30897727 rs144779845 |
593 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA342742392 rs1467642492 |
594 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 595 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1036618584 CA30897729 |
595 | Q>P | No |
TOPMed gnomAD ClinGen |
|
|
rs754886184 CA1143790 |
596 | L>P | No |
ExAC gnomAD ClinGen |
|
|
CA30897736 rs1014831464 |
598 | G>R | No |
ClinGen TOPMed |
|
|
CA342742545 rs897179968 |
600 | P>A | No |
TOPMed gnomAD ClinGen |
|
|
rs897179968 CA30897741 |
600 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA30897753 rs150384812 |
602 | L>P | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs1485338702 CA342742670 |
603 | W>* | No |
ClinGen TOPMed |
|
|
CA1143793 rs771111659 |
603 | W>G | No |
ExAC ClinGen |
|
|
CA1143794 rs779154170 |
605 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs746110201 CA1143795 |
606 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1258137808 CA342742870 |
608 | H>P | No |
ClinGen TOPMed |
|
|
CA1143797 rs775720143 |
609 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA342742992 rs1402997235 |
612 | Q>R | No |
gnomAD ClinGen |
|
|
CA342743182 rs1304955542 |
617 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA342743190 rs1319521104 |
618 | S>Y | No |
TOPMed ClinGen |
|
|
CA342743208 rs1226347595 |
619 | N>D | No |
TOPMed gnomAD ClinGen |
|
|
CA342743327 rs1268206603 |
623 | A>V | No |
ClinGen gnomAD |
|
|
CA342743399 rs769098835 |
625 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769098835 CA1143799 |
625 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA30897803 rs771948474 |
626 | H>L | No |
Ensembl ClinGen |
|
|
rs776197635 CA1143800 |
626 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342743479 rs1400894369 |
627 | Q>R | No |
ClinGen gnomAD |
|
|
COSM896869 rs764867181 CA1143802 |
628 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA1143801 rs761444748 |
628 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1143803 VAR_048746 rs35001694 |
630 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
|
rs143083596 CA1143804 |
632 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342743656 rs1371728477 |
633 | L>P | No |
gnomAD ClinGen |
|
|
rs1466385738 CA342743636 |
633 | L>V | No |
ClinGen TOPMed |
|
|
CA342743671 rs1360150237 |
634 | S>F | No |
gnomAD ClinGen |
|
|
CA342743709 rs1426036173 |
635 | P>L | No |
ClinGen TOPMed |
|
|
CA1143805 rs147514389 |
638 | P>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA342743800 rs1368771517 |
638 | P>L | No |
ClinGen TOPMed |
|
|
CA30897810 rs560173958 |
639 | A>V | No |
Ensembl ClinGen |
|
|
CA342743884 rs1189564063 |
640 | T>I | No |
TOPMed ClinGen |
|
|
CA342743908 rs1384686200 |
641 | L>R | No |
ClinGen gnomAD |
|
|
CA30897813 rs867554082 |
642 | L>F | No |
ClinGen Ensembl |
|
|
rs754939305 CA1143807 |
644 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569376899 CA1143808 |
644 | R>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs569376899 CA1143809 |
644 | R>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs569376899 CA342744016 |
644 | R>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1381613043 CA342744073 |
645 | S>F | No |
ClinGen gnomAD |
|
|
CA1143811 rs778994051 |
646 | A>S | No |
ExAC gnomAD ClinGen |
|
|
rs370336503 CA1143812 |
646 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs746683570 CA1143813 |
647 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780449912 CA1143814 |
648 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1143815 rs747396154 COSM1334615 |
648 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1143816 rs747396154 |
648 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1356623396 CA342744195 |
650 | A>T | No |
ClinGen gnomAD |
|
|
rs1247456505 CA342744300 |
653 | P>S | No |
ClinGen gnomAD |
|
|
rs1265515407 CA342744388 |
655 | S>F | No |
gnomAD ClinGen |
|
|
CA1143819 rs769365290 |
656 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748700666 CA1143818 |
656 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328345243 CA342744438 |
657 | L>M | No |
TOPMed ClinGen |
|
|
rs1242701159 CA342744522 |
659 | P>L | No |
gnomAD ClinGen |
|
|
CA342744531 rs371953490 |
660 | V>F | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1143823 rs371953490 |
660 | V>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1369150652 CA342744565 |
661 | R>* | No |
ClinGen gnomAD |
|
|
CA1143824 rs759298261 |
661 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1143825 rs767366757 |
662 | A>S | No |
ExAC gnomAD ClinGen |
|
|
CA342744646 rs1457623269 |
663 | G>D | No |
ClinGen gnomAD |
|
|
rs1386865372 CA342744625 |
663 | G>S | No |
ClinGen gnomAD |
|
|
CA1143826 rs555589580 |
666 | A>E | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA30897910 rs956648618 |
666 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs149880612 CA1143827 |
669 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342744909 rs375016146 |
670 | R>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA342744906 rs375016146 |
670 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238959253 CA342744910 |
670 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs375016146 CA1143829 |
670 | R>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1143830 rs200510967 |
673 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs780176401 CA1143831 |
674 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1262945188 CA342745101 |
676 | A>P | No |
gnomAD ClinGen |
|
|
CA342745112 rs1211994004 |
676 | A>V | No |
ClinGen TOPMed |
|
|
rs747373330 CA1143832 |
677 | R>* | No |
ExAC gnomAD ClinGen |
|
|
CA1143833 rs755263049 |
677 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA342745148 rs1256917275 |
678 | T>I | No |
TOPMed gnomAD ClinGen |
|
|
rs1256917275 CA342745144 |
678 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA342745171 rs1179555202 |
679 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs772845242 CA1143837 |
681 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs772845242 CA342745229 |
681 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs770483614 CA1143836 |
681 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs373189433 CA30897992 |
682 | S>R | No |
Ensembl ClinGen |
|
|
rs372403714 CA342745364 |
685 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1143839 rs372403714 |
685 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1470737272 CA342745350 |
685 | R>W | No |
ClinGen gnomAD |
|
|
rs908914335 CA30898001 |
687 | G>R | No |
gnomAD ClinGen |
|
|
rs577533643 CA1143840 |
688 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759264618 CA1143841 |
688 | R>H | No |
ExAC gnomAD ClinGen |
|
|
CA342745490 rs1229573763 |
690 | Q>H | No |
ClinGen gnomAD |
|
|
rs1283020156 CA342745541 |
693 | L>V | No |
ClinGen gnomAD |
|
|
rs775275662 CA1143843 |
695 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs760590198 CA1143844 |
695 | G>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA342745632 rs1194080758 |
697 | P>H | No |
ClinGen gnomAD |
|
|
CA342745640 rs1194080758 |
697 | P>L | No |
ClinGen gnomAD |
|
|
CA342745635 rs1194080758 |
697 | P>R | No |
gnomAD ClinGen |
|
|
CA1143845 rs764083401 |
697 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs545000025 CA1143848 |
698 | P>L | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs377209022 CA1143847 |
698 | P>S | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1426900894 CA342745654 |
699 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA1143849 rs751669488 |
699 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113394074 CA30898021 |
700 | G>V | No |
ClinGen Ensembl |
|
|
rs1176543866 CA342745738 |
702 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
rs781682446 CA342745769 |
703 | R>L | No |
ExAC gnomAD ClinGen |
|
|
rs781682446 CA1143851 |
703 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755243813 CA1143850 |
703 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1052425181 CA30898037 |
704 | R>Q | No |
ClinGen gnomAD |
|
|
CA1143852 rs753181610 |
704 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1478187340 CA342745821 |
705 | L>P | No |
TOPMed ClinGen |
|
|
rs756659406 CA1143853 |
706 | G>E | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 707 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1143854 rs763111047 |
708 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA30898056 rs770306788 |
708 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs770306788 CA1143856 |
708 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
COSM1334616 rs763111047 CA1143855 |
708 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs369748993 CA1143858 |
710 | R>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1143859 rs563192411 |
710 | R>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA342746075 rs1218029590 |
711 | P>R | No |
TOPMed ClinGen |
|
|
CA1143861 rs760500406 |
713 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs904657703 CA30898097 |
719 | L>M | No |
Ensembl ClinGen |
|
| TCGA novel | 719 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342746353 rs1483444966 |
720 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 721 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1143863 rs201982885 |
722 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA1143862 rs768554281 |
722 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA1143867 rs751721860 |
726 | D>E | No |
ExAC gnomAD ClinGen |
|
|
CA1143866 rs562748460 |
726 | D>N | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs759676154 CA1143868 |
731 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
COSM173198 rs767894046 CA1143869 |
731 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs767894046 CA1143870 |
731 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30898139 rs527368382 |
735 | G>E | No |
ClinGen Ensembl |
|
|
rs751908954 CA1143874 |
738 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs751908954 CA1143873 |
738 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200468064 CA1143872 |
738 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs778272780 CA1143875 |
740 | P>A | No |
ExAC gnomAD ClinGen |
|
|
CA342746655 rs1361752487 |
740 | P>L | No |
gnomAD ClinGen |
|
|
CA342746701 rs1553229320 |
743 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 744 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30898166 rs866478043 |
746 | A>T | No |
Ensembl ClinGen |
|
|
rs757620410 CA1143878 |
748 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30898171 rs866644612 |
748 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 748 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746682622 CA1143879 |
749 | P>T | No |
ExAC gnomAD ClinGen |
|
|
rs1416424368 CA342746811 |
750 | R>S | No |
ClinGen gnomAD |
|
|
rs1241272916 CA342746834 |
752 | A>V | No |
ClinGen gnomAD |
|
|
CA342746840 rs1484810416 |
753 | Q>E | No |
ClinGen gnomAD |
|
|
CA1143884 rs769839630 |
754 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342746874 rs769839630 |
754 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1143883 rs776503763 |
754 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1143882 rs776503763 |
754 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342746903 rs908869361 |
756 | R>K | No |
gnomAD ClinGen |
|
|
rs908869361 CA30898196 |
756 | R>T | No |
gnomAD ClinGen |
|
|
CA1143886 rs759739772 |
757 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs963153039 CA30898212 |
759 | V>A | No |
Ensembl ClinGen |
|
|
rs775816352 CA1143888 |
760 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs1450451001 CA342746997 |
761 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs760982157 CA1143889 |
761 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 761 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1143890 rs764495418 |
762 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA342747029 rs1366157432 |
763 | A>S | No |
ClinGen gnomAD |
|
|
CA342747047 rs1452225841 |
764 | T>S | No |
ClinGen gnomAD |
|
|
CA1143892 rs754284796 |
765 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA30898225 rs754284796 |
765 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs78516811 CA1143895 |
766 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78516811 CA1143894 COSM1334617 |
766 | R>Q | large_intestine [Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs376990594 CA1143893 |
766 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA30898228 rs1052031652 |
767 | G>C | No |
ClinGen Ensembl |
|
|
CA1143896 rs757851645 |
767 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA342747131 rs1210287871 |
769 | Q>* | No |
gnomAD ClinGen |
|
|
CA30898245 rs1017105999 |
770 | L>F | No |
ClinGen Ensembl |
|
|
rs1268562037 CA342747176 |
772 | A>G | No |
ClinGen gnomAD |
|
|
rs746610817 CA1143898 |
775 | M>Q | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9P1Z3
6 regional properties for Q9P1Z3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ras-like guanine nucleotide exchange factor, N-terminal | 3 - 126 | IPR000651 |
| domain | Ras guanine-nucleotide exchange factors catalytic domain | 150 - 388 | IPR001895 |
| domain | EF-hand domain | 426 - 487 | IPR002048 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 498 - 550 | IPR002219 |
| binding_site | EF-Hand 1, calcium-binding site | 439 - 451 | IPR018247-1 |
| binding_site | EF-Hand 1, calcium-binding site | 468 - 480 | IPR018247-2 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cone cell pedicle | A specialized axon terminus which is produced by retinal cone cells. Pedicles are large, conical, flat end-feet (8-10 micrometers diameter) of the retinal cone axon that lie more or less side by side on the same plane at the outer edge of the outer plexiform layer (OPL). |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| HCN channel complex | A cation ion channel with a preference for K+ over Na+ ions, which is activated by membrane hyperpolarization, and consists of a tetramer of HCN family members. Some members of this family (HCN1, HCN2 and HCN4) are also activated when cAMP binds to their cyclic nucleotide binding domain (CNBD). Channel complexes of this family play an important role in the control of pacemaker activity in the heart. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| cAMP binding | Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate). |
| voltage-gated potassium channel activity | Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| voltage-gated sodium channel activity | Enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to dopamine | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dopamine stimulus. |
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| regulation of membrane depolarization | Any process that modulates the rate, frequency or extent of membrane depolarization. Membrane depolarization is the process in which membrane potential changes in the depolarizing direction from the resting potential, usually from negative to positive. |
| regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
18 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O60741 | HCN1 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 | Homo sapiens (Human) | SS |
| Q9UL51 | HCN2 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 | Homo sapiens (Human) | SS |
| Q9Y3Q4 | HCN4 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 | Homo sapiens (Human) | EV |
| O88704 | Hcn1 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 | Mus musculus (Mouse) | SS |
| O70507 | Hcn4 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 | Mus musculus (Mouse) | SS |
| O88703 | Hcn2 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 | Mus musculus (Mouse) | EV |
| O88705 | Hcn3 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 | Mus musculus (Mouse) | SS |
| Q9JKA9 | Hcn2 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 | Rattus norvegicus (Rat) | SS |
| Q9JKA7 | Hcn4 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 | Rattus norvegicus (Rat) | SS |
| Q9JKB0 | Hcn1 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 | Rattus norvegicus (Rat) | SS |
| Q9JKA8 | Hcn3 | Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 | Rattus norvegicus (Rat) | SS |
| Q6K3T2 | Os02g0245800 | Potassium channel KAT1 | Oryza sativa subsp japonica (Rice) | PR |
| A2ZX97 | Os01g0718700 | Potassium channel KAT6 | Oryza sativa subsp japonica (Rice) | PR |
| Q9SKD7 | CNGC3 | Probable cyclic nucleotide-gated ion channel 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LDR2 | CNGC19 | Putative cyclic nucleotide-gated ion channel 19 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SU64 | CNGC16 | Probable cyclic nucleotide-gated ion channel 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P92960 | ATHB-4 | Potassium channel KAT3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39128 | KAT1 | Potassium channel KAT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAEQRPAAG | ASEGATPGLE | AVPPVAPPPA | TAASGPIPKS | GPEPKRRHLG | TLLQPTVNKF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SLRVFGSHKA | VEIEQERVKS | AGAWIIHPYS | DFRFYWDLIM | LLLMVGNLIV | LPVGITFFKE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ENSPPWIVFN | VLSDTFFLLD | LVLNFRTGIV | VEEGAEILLA | PRAIRTRYLR | TWFLVDLISS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IPVDYIFLVV | ELEPRLDAEV | YKTARALRIV | RFTKILSLLR | LLRLSRLIRY | IHQWEEIFHM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TYDLASAVVR | IFNLIGMMLL | LCHWDGCLQF | LVPMLQDFPP | DCWVSINHMV | NHSWGRQYSH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ALFKAMSHML | CIGYGQQAPV | GMPDVWLTML | SMIVGATCYA | MFIGHATALI | QSLDSSRRQY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QEKYKQVEQY | MSFHKLPADT | RQRIHEYYEH | RYQGKMFDEE | SILGELSEPL | REEIINFTCR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GLVAHMPLFA | HADPSFVTAV | LTKLRFEVFQ | PGDLVVREGS | VGRKMYFIQH | GLLSVLARGA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RDTRLTDGSY | FGEICLLTRG | RRTASVRADT | YCRLYSLSVD | HFNAVLEEFP | MMRRAFETVA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MDRLLRIGKK | NSILQRKRSE | PSPGSSGGIM | EQHLVQHDRD | MARGVRGRAP | STGAQLSGKP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VLWEPLVHAP | LQAAAVTSNV | AIALTHQRGP | LPLSPDSPAT | LLARSAWRSA | GSPASPLVPV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RAGPWASTSR | LPAPPARTLH | ASLSRAGRSQ | VSLLGPPPGG | GGRRLGPRGR | PLSASQPSLP |
| 730 | 740 | 750 | 760 | 770 | |
| QRATGDGSPG | RKGSGSERLP | PSGLLAKPPR | TAQPPRPPVP | EPATPRGLQL | SANM |