Q9HC58
PR
Gene name |
SLC24A3 (NCKX3) |
Protein name |
Sodium/potassium/calcium exchanger 3 |
Names |
Na(+)/K(+)/Ca(2+)-exchange protein 3, Solute carrier family 24 member 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57419 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9HC58
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HC58-F1 | Predicted | AlphaFoldDB |
431 variants for Q9HC58
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA408477935 rs1301224311 |
3 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408477933 rs1301224311 |
3 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA408477934 rs1301224311 |
3 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408477954 rs1241789135 |
6 | D>E | No |
ClinGen gnomAD |
|
|
rs757542722 CA9778997 |
6 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 6 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408477955 rs1286917670 |
7 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1286917670 CA408477956 |
7 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9778998 rs577960314 |
8 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408477972 rs1214567192 |
9 | R>C | No |
ClinGen gnomAD |
|
|
rs1448301389 CA408477973 |
9 | R>H | No |
ClinGen TOPMed |
|
|
rs750628464 CA9778999 |
10 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408477995 rs1600376621 |
13 | R>C | No |
ClinGen Ensembl |
|
|
CA408477996 rs1251305123 |
13 | R>H | No |
ClinGen gnomAD |
|
|
CA408478002 rs1420874292 |
14 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9779005 rs756297323 |
15 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9779006 rs780213028 |
16 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408478012 rs1299764339 |
16 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408478016 rs1475381587 |
17 | R>C | No |
ClinGen gnomAD |
|
|
CA408478024 rs1347718088 |
18 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408478026 rs1347718088 |
18 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs779398514 CA9779009 |
19 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408478028 rs1398002958 |
19 | R>Q | No |
ClinGen gnomAD |
|
|
rs779398514 CA408478027 |
19 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771761579 CA9779011 CA408478044 |
21 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772872781 CA9779012 |
22 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs760255085 CA9779013 |
22 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA408478063 rs1241704679 |
25 | S>T | No |
ClinGen TOPMed |
|
|
rs1252037395 CA408478072 |
26 | Q>P | No |
ClinGen gnomAD |
|
|
CA9779016 rs377191891 |
27 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9779017 rs377191891 |
27 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9779018 rs752588294 |
29 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427208208 CA408478148 |
39 | S>T | No |
ClinGen gnomAD |
|
|
rs545353094 CA9779020 |
39 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756342582 CA9779022 |
44 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408478189 rs1158048004 |
46 | Q>E | No |
ClinGen TOPMed |
|
|
CA408478195 rs1296495813 |
46 | Q>H | No |
ClinGen gnomAD |
|
|
rs753855008 CA9779024 |
46 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs753998289 CA9779044 |
49 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_028024 CA9779045 rs3790174 |
49 | L>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs753998289 CA9779043 |
49 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408478261 rs1258780380 |
50 | D>E | No |
ClinGen TOPMed |
|
|
CA408478255 rs1459530570 |
50 | D>N | No |
ClinGen TOPMed |
|
|
CA408478264 rs753158047 COSM1713263 |
51 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9779046 rs753158047 |
51 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs758893747 CA9779047 |
52 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA408478276 rs1455908351 |
53 | D>N | No |
ClinGen gnomAD |
|
|
rs1600409198 CA408478286 |
54 | L>F | No |
ClinGen Ensembl |
|
|
CA9779050 rs536798351 |
55 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9779049 VAR_028025 rs1569767 |
55 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9779051 rs780733332 |
56 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1281021116 CA408478299 |
57 | E>K | No |
ClinGen TOPMed |
|
|
rs1366646513 CA408478310 |
58 | D>A | No |
ClinGen TOPMed |
|
|
rs1219529614 CA408478308 |
58 | D>N | No |
ClinGen TOPMed |
|
|
CA9779052 rs745498248 |
59 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1290051360 CA408478318 |
59 | R>T | No |
ClinGen gnomAD |
|
|
CA9779053 rs769195208 |
60 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408478338 rs1273376505 |
62 | M>V | No |
ClinGen gnomAD |
|
|
rs1469445576 CA408478352 |
63 | M>I | No |
ClinGen gnomAD |
|
|
rs151220818 CA9779054 |
64 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408478372 rs1478022326 |
66 | K>R | No |
ClinGen gnomAD |
|
|
rs1178278230 CA408478386 |
68 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs200019569 CA408478393 |
69 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9779056 rs200019569 |
69 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1418899130 CA408478399 |
70 | V>A | No |
ClinGen gnomAD |
|
|
CA408478400 rs1418899130 |
70 | V>G | No |
ClinGen gnomAD |
|
|
rs369940244 CA9779057 |
70 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767291276 CA9779059 |
72 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9779063 rs765293325 |
77 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9779064 rs752770400 |
78 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA408478455 rs34507363 |
79 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758946833 CA9779065 |
79 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9779066 rs34507363 |
79 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9779068 rs757597204 |
80 | G>R | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408478461 rs1384065047 |
80 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM78507 rs376513919 CA9779070 |
82 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150292821 CA9779069 COSM1024926 |
82 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408478475 rs1206528589 |
83 | N>S | No |
ClinGen gnomAD |
|
|
CA9779071 rs755775488 |
84 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1482342545 CA408478488 |
85 | K>E | No |
ClinGen gnomAD |
|
|
CA9779073 rs779492472 |
85 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408478512 rs1419007076 |
88 | T>I | No |
ClinGen gnomAD |
|
|
COSM1024927 CA9779075 rs370045193 |
89 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201039954 CA9779095 |
93 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1294847037 CA408479372 |
96 | P>A | No |
ClinGen gnomAD |
|
|
rs1568640944 CA408479385 |
97 | N>S | No |
ClinGen Ensembl |
|
|
CA9779098 rs770584890 |
98 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9779097 rs746798513 |
98 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA408479435 rs1347620472 |
101 | T>K | No |
ClinGen gnomAD |
|
|
rs748005995 CA408479453 |
102 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs376047219 CA9779100 |
103 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9779099 rs376047219 |
103 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408479473 rs960187005 |
104 | D>H | No |
ClinGen gnomAD |
|
|
rs960187005 CA312864071 |
104 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774404839 CA9779102 |
104 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA408479515 rs144636987 |
109 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9779104 rs144636987 COSM270163 |
109 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9779106 rs761120407 |
112 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9779107 rs766807269 |
114 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296463212 CA408479556 |
116 | C>F | No |
ClinGen gnomAD |
|
| rs774451616 | 117 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170045370 CA408478551 |
118 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 119 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9779122 rs748233500 |
120 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA9779121 rs748233500 |
120 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 121 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761018781 COSM1410628 CA9779124 |
123 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA408478600 rs1458079105 |
125 | A>S | No |
ClinGen gnomAD |
|
|
rs1294840215 CA408478605 |
126 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 128 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs912479112 CA312871637 |
128 | C>Y | No |
ClinGen Ensembl |
|
|
CA9779129 rs752244122 |
133 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408478671 rs1568662092 |
135 | S>C | No |
ClinGen Ensembl |
|
|
CA408478694 CA9779130 rs376578374 |
138 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751531438 CA9779132 |
140 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9779154 rs750308866 COSM3723567 |
142 | R>C | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755931195 CA9779155 |
142 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408478899 rs755931195 |
142 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758512824 CA9779156 |
144 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs752976291 CA9779157 |
147 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9779160 rs747063634 |
152 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 155 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9779161 rs771086842 |
157 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408479017 rs1367368614 |
160 | S>L | No |
ClinGen gnomAD |
|
|
CA9779164 rs770211296 |
161 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs3790267 VAR_028026 CA9779167 |
168 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA408479110 rs1379991118 |
173 | I>T | No |
ClinGen gnomAD |
|
|
CA312872286 rs1048026457 |
174 | T>A | No |
ClinGen Ensembl |
|
|
rs1317802795 CA408479132 |
177 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9779189 rs760733042 |
178 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 179 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344669960 CA408479157 |
181 | G>S | No |
ClinGen gnomAD |
|
|
CA9779191 rs369855260 |
183 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766196428 CA9779190 |
183 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9779193 rs765014186 |
184 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408479174 rs765014186 |
184 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1751339 CA9779195 rs757537532 |
187 | A>V | urinary_tract prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9779198 rs756688978 |
188 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs562826679 CA9779199 |
191 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408479226 rs1262930593 |
192 | L>P | No |
ClinGen TOPMed |
|
|
rs749766738 CA9779200 |
194 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408479247 rs1471734620 |
195 | I>T | No |
ClinGen gnomAD |
|
|
rs139234159 CA9779202 |
200 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408479276 rs139234159 |
200 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747857316 CA9779203 |
202 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9779204 rs771708856 |
202 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1568663972 CA408479293 |
203 | G>R | No |
ClinGen Ensembl |
|
|
CA9779230 rs762859258 |
205 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1444413509 CA408478734 |
206 | V>M | No |
ClinGen gnomAD |
|
|
rs773314666 CA9779232 |
210 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs147680736 CA9779235 |
217 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760077393 CA9779236 |
218 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408478835 rs1490496066 |
221 | T>M | No |
ClinGen Ensembl |
|
| TCGA novel | 222 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778053627 CA9779240 |
226 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9779241 rs144397991 |
226 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325263827 CA408478870 |
227 | L>P | No |
ClinGen gnomAD |
|
|
CA9779243 rs375935409 |
229 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764431008 CA9779268 |
232 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA408479392 rs1252269016 |
233 | D>N | No |
ClinGen gnomAD |
|
|
CA9779269 rs751918306 |
235 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 236 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866229984 COSM3423532 CA312881610 |
237 | S>F | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs771717118 CA9779279 |
239 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA9779280 rs776944663 |
244 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs746032013 CA9779281 |
245 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9779282 rs148897045 |
249 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408479696 rs1189094196 |
250 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1568692987 CA408479706 |
251 | Y>C | No |
ClinGen Ensembl |
|
|
rs1443335078 CA408479719 |
252 | I>T | No |
ClinGen gnomAD |
|
|
CA9779285 rs764637023 |
253 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs767710814 CA9779288 |
255 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9779298 rs777416707 |
256 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312882531 rs112483002 |
256 | K>R | No |
ClinGen Ensembl |
|
|
rs1321275465 CA408480119 |
258 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9779301 rs140864804 |
259 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749389418 CA9779302 |
259 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312883539 rs902968446 |
260 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA312883541 rs998540847 |
261 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA312883540 rs202076709 |
261 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768573892 CA9779303 |
262 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9779304 rs774923671 |
267 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs767986780 COSM166800 CA9779306 |
269 | T>A | Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
VAR_028027 rs6136807 CA312883542 |
271 | G>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1204092994 CA408480266 |
272 | A>S | No |
ClinGen Ensembl |
|
|
rs773710643 CA9779307 |
272 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1469471144 CA408480276 |
273 | G>E | No |
ClinGen gnomAD |
|
|
COSM1410631 COSM388511 rs144722474 CA9779309 |
273 | G>R | lung large_intestine Variant assessed as Somatic; 0.0003235 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9779310 rs753494102 |
274 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1218891339 CA408480296 |
275 | M>T | No |
ClinGen Ensembl |
|
|
rs754547750 CA9779311 |
275 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9779312 rs138584821 |
276 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371903812 CA9779314 |
278 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9779316 rs746782731 |
280 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780282593 CA9779319 CA9779318 |
281 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756993620 CA9779317 |
281 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9779320 rs768798135 |
282 | N>S | No |
ClinGen ExAC TOPMed |
|
|
rs778849480 CA9779321 |
285 | I>N | No |
ClinGen ExAC |
|
|
rs748758766 CA9779322 |
287 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312883545 rs375389846 |
290 | N>S | No |
ClinGen Ensembl |
|
|
rs765357990 CA9779324 |
292 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1267210986 CA408480498 |
293 | A>T | No |
ClinGen gnomAD |
|
|
CA408480505 rs1459442507 |
294 | T>A | No |
ClinGen TOPMed |
|
|
CA408480515 rs1480237046 |
295 | V>L | No |
ClinGen gnomAD |
|
|
CA408480534 rs1347872267 |
297 | L>P | No |
ClinGen TOPMed |
|
|
COSM144840 CA9779343 rs759715523 |
305 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs150240114 CA9779344 |
305 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138878324 CA9779345 |
306 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9779348 rs775158778 |
311 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA312883749 rs987315551 |
311 | M>V | No |
ClinGen TOPMed |
|
|
rs1284282895 CA408480739 |
312 | V>I | No |
ClinGen gnomAD |
|
|
CA9779349 rs762398209 |
313 | D>G | No |
ClinGen ExAC gnomAD |
|
|
COSM229617 rs144816265 CA9779351 |
314 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs139873084 CA9779353 |
319 | Y>C | No |
ClinGen ESP ExAC |
|
|
rs1204019235 CA408480810 |
323 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1243846236 CA408480834 |
326 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408480857 rs1392563785 |
330 | L>V | No |
ClinGen TOPMed |
|
|
rs1052212745 CA312883750 |
331 | R>* | No |
ClinGen TOPMed |
|
|
CA408480863 rs1466200894 |
331 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9779355 rs200727586 |
335 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9779356 rs779027207 |
336 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 337 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758556253 CA9779358 CA312883751 |
338 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449992723 CA408480910 |
338 | F>L | No |
ClinGen gnomAD |
|
|
rs890563472 CA312883752 |
339 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 339 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777942081 CA9779359 |
340 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777942081 CA408480924 |
340 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA408480927 rs1334350838 |
341 | K>Q | No |
ClinGen gnomAD |
|
|
CA9779361 rs757807399 |
342 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs746239436 CA9779363 |
343 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1335473886 COSM1024940 CA408480939 |
343 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9779364 rs770152234 |
345 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9779366 rs748877701 |
349 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA312883753 rs968691773 |
349 | R>H | No |
ClinGen gnomAD |
|
|
rs768210146 CA9779367 |
350 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA312883754 rs1034577808 |
350 | M>T | No |
ClinGen Ensembl |
|
|
rs773851166 CA9779368 |
353 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156281355 CA408481296 |
356 | Q>H | No |
ClinGen gnomAD |
|
|
CA9779395 rs763313573 |
356 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA312883831 rs143829199 |
357 | R>K | No |
ClinGen ESP TOPMed |
|
|
rs1400633148 CA408481319 |
360 | N>H | No |
ClinGen gnomAD |
|
|
rs992214532 CA312883833 |
361 | S>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 363 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs979263716 CA312883835 |
363 | A>V | No |
ClinGen Ensembl |
|
|
rs767571293 CA9779399 |
365 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9779400 rs140797756 |
366 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1349870921 CA408481366 |
367 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1223054533 CA408481373 |
368 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 369 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535316839 CA9779403 |
372 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9779404 rs755291192 |
372 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266085479 CA408481409 |
373 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1420488877 CA408481406 |
373 | I>N | No |
ClinGen gnomAD |
|
|
rs778571020 CA9779405 |
373 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs144441319 CA9779406 |
376 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200552083 CA9779407 |
377 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476440756 CA408481462 |
381 | V>A | No |
ClinGen TOPMed |
|
|
CA9779409 rs76270899 |
381 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9779410 rs377645777 |
382 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1187958053 CA408481485 |
385 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 386 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408481491 rs1293284783 |
386 | G>W | No |
ClinGen gnomAD |
|
|
rs545035420 CA9779412 |
387 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9779413 rs769645640 |
389 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1244246169 CA408481517 |
390 | A>T | No |
ClinGen TOPMed |
|
|
rs1335193293 CA408481521 |
390 | A>V | No |
ClinGen gnomAD |
|
|
CA9779416 rs767557393 |
394 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9779418 rs199569984 |
395 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9779420 rs75574349 |
399 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9779419 rs200832045 |
399 | R>W | Variant assessed as Somatic; 0.0008315 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9779421 rs755342135 |
400 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9779422 rs775903076 |
401 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs996981814 CA312883840 |
402 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs140841773 CA9779425 |
404 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs143146156 CA9779426 |
405 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408481616 rs1399793419 |
406 | E>A | No |
ClinGen gnomAD |
|
|
rs770306953 CA9779427 |
406 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 407 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338765964 CA408481629 |
408 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769765422 CA9779430 |
410 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA312883841 rs1007916505 |
415 | N>D | No |
ClinGen Ensembl |
|
|
rs1224827674 CA408481695 |
417 | D>G | No |
ClinGen gnomAD |
|
|
rs1308987495 CA408481691 |
417 | D>N | No |
ClinGen gnomAD |
|
|
CA408481703 rs1429656235 |
418 | N>S | No |
ClinGen TOPMed |
|
|
CA408481724 rs1323780861 |
421 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408481725 rs1323780861 |
421 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 422 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408481756 rs775418199 |
425 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs775418199 CA9779433 |
425 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA312883842 rs768847571 |
428 | E>D | No |
ClinGen gnomAD |
|
|
rs760845120 CA9779437 |
434 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760845120 CA408481827 |
434 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408481829 rs1178684761 |
435 | Y>H | No |
ClinGen gnomAD |
|
|
rs1403928587 CA408481843 |
437 | P>S | No |
ClinGen gnomAD |
|
|
CA408481858 rs1363955047 |
439 | D>A | No |
ClinGen gnomAD |
|
|
rs777223062 CA9779441 |
439 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs777223062 CA408481856 |
439 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9779443 rs758639901 |
440 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758639901 CA408481866 |
440 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9779477 rs751279859 |
442 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9779478 rs751279859 |
442 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408479611 rs1308436282 |
443 | G>C | No |
ClinGen gnomAD |
|
|
CA9779479 rs574653374 |
443 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408479607 rs1308436282 |
443 | G>S | No |
ClinGen gnomAD |
|
|
rs574653374 CA9779480 |
443 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1367877695 CA408479627 |
444 | K>E | No |
ClinGen gnomAD |
|
|
CA9779481 rs755639745 |
444 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs916024498 CA312884746 |
447 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1490606593 CA408479679 |
447 | T>R | No |
ClinGen gnomAD |
|
|
CA408479686 rs1247796655 |
448 | V>M | No |
ClinGen TOPMed |
|
|
CA9779482 rs780074666 |
450 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1477787766 CA408479755 |
451 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs879915372 CA312884747 |
453 | T>A | No |
ClinGen Ensembl |
|
|
CA9779483 rs369179659 |
453 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754819571 CA9779485 |
455 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1385747191 CA408479815 |
459 | V>L | No |
ClinGen gnomAD |
|
|
CA408479833 rs1301003722 |
461 | Y>* | No |
ClinGen gnomAD |
|
|
CA9779487 rs747322466 |
461 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1214774474 CA408479828 |
461 | Y>H | No |
ClinGen TOPMed |
|
|
rs1468599720 CA408479836 |
462 | F>V | No |
ClinGen TOPMed |
|
|
rs1172603786 CA408479843 |
463 | T>A | No |
ClinGen gnomAD |
|
|
CA312884748 rs541776083 |
466 | N>S | No |
ClinGen 1000Genomes |
|
|
CA408479879 rs1299442414 |
468 | N>S | No |
ClinGen gnomAD |
|
|
CA312884749 rs140299559 |
470 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs1207498030 CA408479892 |
470 | P>T | No |
ClinGen TOPMed |
|
|
CA408479897 rs1270308072 |
471 | R>C | No |
ClinGen TOPMed |
|
| TCGA novel | 471 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408479900 rs745976929 |
471 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9779490 rs745976929 |
471 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA9779491 rs769797387 |
472 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs776077387 CA9779492 |
473 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408479920 rs1229509693 |
474 | K>R | No |
ClinGen TOPMed |
|
|
rs763355716 CA9779493 |
475 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs764583663 CA9779494 |
478 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs764583663 CA408479949 COSM1713266 |
478 | V>M | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 483 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205466852 CA408480023 |
489 | A>G | No |
ClinGen gnomAD |
|
|
CA408480027 rs1441373226 |
490 | F>V | No |
ClinGen TOPMed |
|
|
CA9779497 rs767298516 |
493 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750058264 CA9779498 |
494 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9779522 rs752561972 |
500 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA408480162 rs1430150624 |
501 | I>V | No |
ClinGen TOPMed |
|
|
rs1479743246 CA408480200 |
503 | Y>H | No |
ClinGen TOPMed |
|
|
CA9779524 rs777529569 |
505 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9779526 rs148354103 |
510 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9779527 rs140528062 |
511 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA312885142 rs150496195 |
514 | I>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA408480401 rs1196422941 |
515 | T>A | No |
ClinGen TOPMed |
|
|
CA9779528 rs749347112 |
515 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 517 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277857177 CA408480442 |
518 | A>T | No |
ClinGen gnomAD |
|
|
CA408480465 rs1447450780 |
519 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 521 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748611002 CA9779531 |
523 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA408480602 rs1600345922 |
528 | A>P | No |
ClinGen Ensembl |
|
|
rs373624420 CA312885143 |
530 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA408480624 rs1402127102 |
531 | I>T | No |
ClinGen gnomAD |
|
|
rs1401793972 CA408480635 |
533 | A>T | No |
ClinGen gnomAD |
|
|
rs1320759434 CA408480641 |
534 | R>K | No |
ClinGen gnomAD |
|
|
CA408480647 rs1359000301 |
535 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA408480646 rs1359000301 |
535 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408481028 rs1352825565 |
536 | G>E | No |
ClinGen gnomAD |
|
|
CA408480655 rs1284201158 |
536 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 536 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408480654 rs1284201158 |
536 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA312885347 rs984802906 |
537 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408481032 rs984802906 |
537 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748735640 CA9779553 |
538 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1353896505 CA408481049 |
539 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 543 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408481095 rs1361196575 |
546 | I>V | No |
ClinGen gnomAD |
|
|
rs1176181756 CA408481123 |
550 | V>L | No |
ClinGen gnomAD |
|
|
rs1176181756 CA408481122 |
550 | V>M | No |
ClinGen gnomAD |
|
|
rs540415344 CA9779556 |
558 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408481178 rs1283167444 |
558 | G>V | No |
ClinGen TOPMed |
|
|
rs771288779 CA9779557 |
559 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340441111 CA408481194 |
561 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs745519110 CA9779559 |
564 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs554858596 CA312885350 |
565 | T>N | No |
ClinGen Ensembl |
|
|
CA9779560 rs769359715 |
570 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs143870319 CA408481256 |
571 | G>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9779563 rs764038376 |
571 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs143870319 CA9779562 COSM182537 |
571 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408481264 rs1256861923 |
572 | S>F | No |
ClinGen gnomAD |
|
|
rs369467895 CA9779579 |
575 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369467895 CA9779578 |
575 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9779577 rs139008250 |
575 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374215999 CA9779580 |
577 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1465480836 CA408483508 |
579 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1431687511 CA408483516 |
580 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 580 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 582 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408483535 rs1397792411 |
583 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs150848944 CA9779584 |
585 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs913373382 CA312887561 |
587 | L>S | No |
ClinGen Ensembl |
|
|
CA9779586 rs759726612 |
595 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1488213906 CA408483980 |
596 | V>M | No |
ClinGen gnomAD |
|
|
rs142611512 CA9779602 |
598 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA312887968 rs150597620 |
598 | G>V | No |
ClinGen ESP |
|
|
rs760581173 CA9779603 |
599 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760581173 CA9779604 |
599 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768308634 CA312887970 |
600 | H>R | No |
ClinGen Ensembl |
|
|
rs775910572 CA9779605 |
600 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA312887971 rs879799775 |
602 | N>S | No |
ClinGen gnomAD |
|
|
CA9779607 rs764116366 |
603 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 603 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9779608 rs751632178 |
604 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1332718905 CA408484161 |
609 | K>N | No |
ClinGen gnomAD |
|
|
rs761750270 CA9779609 |
611 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239074937 CA408484199 |
612 | C>W | No |
ClinGen gnomAD |
|
|
CA9779612 rs201313154 |
619 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1380310667 CA408484281 |
619 | G>R | No |
ClinGen gnomAD |
|
|
CA9779613 rs201313154 |
619 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9779614 rs753556235 |
620 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1156969743 CA408484363 |
625 | S>C | No |
ClinGen gnomAD |
|
|
rs922262569 CA312887975 |
626 | I>F | No |
ClinGen TOPMed |
|
|
rs1401823860 CA408484387 |
627 | M>T | No |
ClinGen TOPMed |
|
|
CA408484409 rs1407295264 |
629 | E>Q | No |
ClinGen gnomAD |
|
|
rs778336294 CA408484457 |
632 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778336294 CA9779616 |
632 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1177902232 CA408484489 |
634 | T>S | No |
ClinGen gnomAD |
|
|
CA408484509 rs1243640963 |
636 | V>L | No |
ClinGen gnomAD |
|
|
rs565191257 CA312887977 |
638 | L>Q | No |
ClinGen 1000Genomes |
|
|
rs371843354 CA9779618 |
640 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408484589 rs746887855 CA9779620 |
642 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172268203 CA408484601 |
643 | D>H | No |
ClinGen gnomAD |
|
|
rs1397470789 CA408484621 |
644 | H>L | No |
ClinGen gnomAD |
No associated diseases with Q9HC58
2 regional properties for Q9HC58
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Sodium/calcium exchanger membrane region | 114 - 255 | IPR004837-1 |
| domain | Sodium/calcium exchanger membrane region | 476 - 627 | IPR004837-2 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell periphery | The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| 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 |
|---|---|
| calcium channel activity | Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| calcium, potassium:sodium antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Ca2+(in) + K+(in) + Na+(out) = Ca2+(out) + K+(out) + Na+(in). |
| symporter activity | Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| bone mineralization | The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue. |
| calcium ion transmembrane transport | A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| cellular calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. |
| ion transport | The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| 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. |
| transport across blood-brain barrier | The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRPSGDEDRA | RRRRRRRRRR | DLLLSQLCFL | ASVALLLWSL | SSLREQKELD | LMDLVGEDRK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WMMARKLMQV | NDTLTSEDAG | LRNSKNCTEP | ALHEFPNDIF | TNEDRRQGAV | VLHVLCAIYM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FYALAIVCDD | FFVPSLEKIC | ERLHLSEDVA | GATFMAAGSS | APELFTSVIG | VFITKGDVGV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GTIVGSAVFN | ILCIIGVCGL | FAGQVVALSS | WCLLRDSIYY | TLSVIALIVF | IYDEKVSWWE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SLVLVLMYLI | YIVIMKYNAC | IHQCFERRTK | GAGNMVNGLA | NNAEIDDSSN | CDATVVLLKK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ANFHRKASVI | MVDELLSAYP | HQLSFSEAGL | RIMITSHFPP | KTRLSMASRM | LINERQRLIN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SRAYTNGESE | VAIKIPIKHT | VENGTGPSSA | PDRGVNGTRR | DDVVAEAGNE | TENENEDNEN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DEEEEEDEDD | DEGPYTPFDT | PSGKLETVKW | AFTWPLSFVL | YFTVPNCNKP | RWEKWFMVTF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ASSTLWIAAF | SYMMVWMVTI | IGYTLGIPDV | IMGITFLAAG | TSVPDCMASL | IVARQGMGDM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AVSNSIGSNV | FDILIGLGLP | WALQTLAVDY | GSYIRLNSRG | LIYSVGLLLA | SVFVTVFGVH |
| 610 | 620 | 630 | 640 | ||
| LNKWQLDKKL | GCGCLLLYGV | FLCFSIMTEF | NVFTFVNLPM | CGDH |