Q9P246
Gene name |
STIM2 (KIAA1482) |
Protein name |
Stromal interaction molecule 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57620 |
EC number |
|
Protein Class |
STROMAL INTERACTION MOLECULE HOMOLOG (PTHR15136) |

Descriptions
STIM2 plays a role in mediating store-operated Ca2+ entry (SOCE), a Ca2+ influx following depletion of intracellular Ca2+ stores and functions as a highly sensitive Ca2+ sensor in the endoplasmic reticulum which activates both store-operated and store-independent Ca2+-influx. EF-SAM in STIM2 regulates CRAC channels through a divergent balance between EF-hand Ca2+ affinity and SAM domain stability. The Ca2+-binding EF-hand and SAM domain are major contributors to the autoinhibition of oligomerization in each respective isoform.
Autoinhibitory domains (AIDs)
Target domain |
345-445 (SOAR domain) |
Relief mechanism |
Others |
Assay |
Deletion assay, Structural analysis |
Accessory elements
No accessory elements
References
- Zheng L et al. (2011) "Auto-inhibitory role of the EF-SAM domain of STIM proteins in store-operated calcium entry", Proceedings of the National Academy of Sciences of the United States of America, 108, 1337-42
- Korzeniowski MK et al. (2010) "Activation of STIM1-Orai1 involves an intramolecular switching mechanism", Science signaling, 3, ra82
Autoinhibited structure
Activated structure

2 structures for Q9P246
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2L5Y | NMR | - | A | 62-205 | PDB |
AF-Q9P246-F1 | Predicted | AlphaFoldDB |
501 variants for Q9P246
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA2882569 rs764210656 |
2 | L>P | No |
ClinGen ExAC gnomAD |
|
rs992266576 CA94424728 |
5 | G>W | No |
ClinGen TOPMed |
|
rs751772322 CA2882570 |
8 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1410817385 CA356676217 |
8 | V>L | No |
ClinGen gnomAD |
|
CA356676235 rs1402287719 |
11 | A>E | No |
ClinGen gnomAD |
|
CA356676237 rs1402287719 |
11 | A>V | No |
ClinGen gnomAD |
|
rs779833394 CA2882572 |
12 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1352750063 CA356676258 |
15 | C>R | No |
ClinGen gnomAD |
|
rs1288092910 CA356676274 |
17 | L>V | No |
ClinGen gnomAD |
|
CA2882576 rs754897368 |
19 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882575 rs754897368 |
19 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356676289 rs1344332903 |
20 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs1344332903 CA356676290 |
20 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs757966871 CA94424731 |
21 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882579 rs777492101 |
21 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882578 rs757966871 |
21 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882580 rs746591670 |
23 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA94424732 rs746591670 |
23 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1249541056 CA356676311 |
24 | G>R | No |
ClinGen gnomAD |
|
CA356676324 rs1185591183 |
26 | R>P | No |
ClinGen gnomAD |
|
rs1423104391 CA356676328 |
27 | A>E | No |
ClinGen TOPMed |
|
CA356676336 rs1437307687 |
28 | T>I | No |
ClinGen TOPMed |
|
CA356676348 rs1469583500 |
30 | S>F | No |
ClinGen TOPMed |
|
rs1377710819 CA356676350 |
31 | A>P | No |
ClinGen gnomAD |
|
CA356676355 rs1171166084 |
32 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA2882583 rs746247493 |
32 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA94424736 rs989163908 |
35 | A>S | No |
ClinGen TOPMed |
|
CA94424737 rs555325789 |
35 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
rs770231794 CA2882584 |
36 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA94424740 rs1033660341 |
37 | S>A | No |
ClinGen TOPMed |
|
CA94424739 rs1033660341 |
37 | S>P | No |
ClinGen TOPMed |
|
CA356676390 rs1388759897 |
38 | P>L | No |
ClinGen gnomAD |
|
CA356676386 rs1291515169 |
38 | P>S | No |
ClinGen TOPMed |
|
rs1014057458 CA94424741 |
39 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1014057458 CA356676391 |
39 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs572134717 CA94424743 |
40 | A>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs572134717 CA94424742 |
40 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs978458090 CA94424744 |
40 | A>V | No |
ClinGen TOPMed |
|
CA356676404 rs1276833697 |
41 | A>V | No |
ClinGen gnomAD |
|
rs1205777827 CA356676407 |
42 | A>T | No |
ClinGen gnomAD |
|
rs1193796376 CA356676414 |
43 | G>D | No |
ClinGen TOPMed |
|
rs1250553612 CA356676419 |
44 | D>G | No |
ClinGen gnomAD |
|
rs778412917 CA94424745 |
44 | D>H | No |
ClinGen TOPMed |
|
rs778412917 CA94424746 |
44 | D>Y | No |
ClinGen TOPMed |
|
CA356676436 rs1560546233 |
46 | P>L | No |
ClinGen Ensembl |
|
CA94424747 rs966906039 |
47 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs775840841 CA2882585 |
48 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882586 rs763511783 |
49 | M>L | No |
ClinGen ExAC |
|
CA2882599 rs373220365 |
51 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1294709028 CA356675859 |
51 | D>V | No |
ClinGen gnomAD |
|
CA2882600 rs758413160 |
54 | M>R | No |
ClinGen ExAC gnomAD |
|
rs777357647 CA2882601 |
57 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs565106502 CA2882602 |
57 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2882603 rs756891715 |
58 | P>L | No |
ClinGen ExAC gnomAD |
|
CA2882605 rs745586309 |
59 | P>A | No |
ClinGen ExAC gnomAD |
|
CA2882606 rs745586309 |
59 | P>S | No |
ClinGen ExAC gnomAD |
|
rs775904809 CA2882607 |
62 | T>I | No |
ClinGen ExAC gnomAD |
|
CA2882608 rs749732490 |
63 | E>K | No |
ClinGen ExAC gnomAD |
|
CA356675944 rs1272128982 |
64 | E>D | No |
ClinGen TOPMed |
|
rs769165474 CA2882609 |
68 | S>N | No |
ClinGen ExAC gnomAD |
|
CA356675980 rs1322738764 |
69 | L>R | No |
ClinGen gnomAD |
|
CA356676007 rs767677334 |
73 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761022239 CA2882614 |
76 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA356676026 rs1229958452 |
76 | H>R | No |
ClinGen gnomAD |
|
CA356676042 rs1231100522 |
78 | Q>L | No |
ClinGen gnomAD |
|
CA356676058 rs1409698484 |
80 | D>G | No |
ClinGen TOPMed |
|
rs1269589764 CA356676062 |
81 | D>N | No |
ClinGen gnomAD |
|
CA94431321 rs554858949 |
86 | G>E | No |
ClinGen Ensembl |
|
CA356676165 rs1465047025 |
94 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA2882634 rs760750420 |
96 | I>F | No |
ClinGen ExAC gnomAD |
|
CA94435113 rs940991778 |
101 | K>R | No |
ClinGen TOPMed |
|
CA356676550 rs1427385290 |
104 | D>G | No |
ClinGen gnomAD |
|
rs1175646259 CA356676546 |
104 | D>N | No |
ClinGen gnomAD |
|
CA356676561 rs1217129195 |
106 | T>A | No |
ClinGen gnomAD |
|
CA356676586 rs1481845294 |
109 | H>R | No |
ClinGen TOPMed |
|
CA2882635 rs771297230 |
111 | H>R | No |
ClinGen ExAC gnomAD |
|
CA356676633 rs1374832328 |
116 | D>N | No |
ClinGen gnomAD |
|
rs1336056224 CA356676653 |
118 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA356676658 rs1277356845 |
119 | I>V | No |
ClinGen gnomAD |
|
rs1292582185 CA356676669 |
120 | T>M | No |
ClinGen TOPMed |
|
rs1358771017 CA356676671 |
121 | I>V | No |
ClinGen TOPMed |
|
CA356676678 rs1278977074 |
122 | E>Q | No |
ClinGen gnomAD |
|
CA356676718 rs1275818660 |
127 | R>* | No |
ClinGen gnomAD |
|
rs761878747 CA2882640 |
127 | R>Q | No |
ClinGen ExAC |
|
rs1179969347 CA356676741 |
130 | T>I | No |
ClinGen gnomAD |
|
rs971300045 CA94435117 |
132 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA2882657 rs768569978 |
134 | H>L | No |
ClinGen ExAC gnomAD |
|
rs1560233787 CA356581761 |
134 | H>N | No |
ClinGen Ensembl |
|
rs768569978 CA2882658 |
134 | H>R | No |
ClinGen ExAC gnomAD |
|
CA2882660 rs143071033 |
139 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148199305 CA2882661 |
140 | D>A | No |
ClinGen ESP ExAC gnomAD |
|
CA2882662 rs148199305 |
140 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
rs1166007773 CA356581805 |
140 | D>Y | No |
ClinGen gnomAD |
|
rs993011869 CA93710244 |
141 | T>A | No |
ClinGen TOPMed |
|
CA93710246 rs371543285 |
143 | Q>H | No |
ClinGen ESP TOPMed |
|
CA2882663 rs375787750 |
146 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs372691474 CA2882664 |
152 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1225876473 CA356581907 |
155 | E>A | No |
ClinGen gnomAD |
|
CA2882668 rs758791089 |
155 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA93710258 rs566478508 |
156 | K>N | No |
ClinGen gnomAD |
|
CA2882669 rs778308298 |
157 | N>K | No |
ClinGen ExAC gnomAD |
|
CA2882670 rs369386905 |
159 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1369641381 CA356581941 |
160 | D>H | No |
ClinGen TOPMed gnomAD |
|
CA356581948 rs1560233864 |
161 | N>H | No |
ClinGen Ensembl |
|
CA2882672 rs372734758 |
162 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1205845580 CA356581960 |
162 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA356581967 rs1446361993 |
163 | V>A | No |
ClinGen gnomAD |
|
rs1190862846 CA356581975 |
164 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs140208879 CA2882674 |
166 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2882675 rs560356253 |
166 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1415271295 CA356582000 |
169 | P>A | No |
ClinGen gnomAD |
|
rs1051823993 CA93710956 |
173 | V>A | No |
ClinGen Ensembl |
|
rs999271692 CA93710959 |
175 | E>G | No |
ClinGen gnomAD |
|
rs776078709 CA2882706 |
175 | E>K | No |
ClinGen ExAC gnomAD |
|
CA2882708 rs764698334 |
176 | P>H | No |
ClinGen ExAC gnomAD |
|
CA356582094 rs1481467127 |
178 | F>C | No |
ClinGen gnomAD |
|
rs142156031 CA93710962 |
179 | M>I | No |
ClinGen TOPMed gnomAD |
|
rs142156031 CA356582105 |
179 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA2882710 rs139037227 |
181 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1173415174 CA356582141 |
182 | Q>R | No |
ClinGen TOPMed |
|
rs1560235216 CA356582176 |
185 | I>T | No |
ClinGen Ensembl |
|
CA2882711 rs764455082 |
185 | I>V | No |
ClinGen ExAC gnomAD |
|
rs369379067 CA93710967 |
186 | S>N | No |
ClinGen ESP |
|
rs1414376640 CA356582208 |
187 | D>E | No |
ClinGen TOPMed |
|
CA2882713 rs762364163 |
188 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA2882712 rs373462253 |
188 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356582280 rs1462849538 |
194 | L>F | No |
ClinGen gnomAD |
|
CA2882715 rs751007560 |
198 | A>T | No |
ClinGen ExAC gnomAD |
|
rs756197716 CA93710972 |
200 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882716 rs756197716 |
200 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755167041 CA2882719 |
209 | R>C | No |
ClinGen ExAC gnomAD |
|
CA93711455 rs745860886 |
209 | R>H | No |
ClinGen Ensembl |
|
rs1234782360 CA356582654 |
210 | P>T | No |
ClinGen gnomAD |
|
rs753883702 CA356582661 |
211 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882738 rs753883702 |
211 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs372680108 CA2882739 |
212 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
rs1328871866 CA356582667 |
212 | H>Y | No |
ClinGen TOPMed |
|
CA2882740 rs779075717 |
213 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752966483 CA2882741 |
214 | W>R | No |
ClinGen ExAC gnomAD |
|
CA2882742 rs757028333 |
215 | M>L | No |
ClinGen ExAC gnomAD |
|
CA2882743 rs781028780 |
216 | K>E | No |
ClinGen ExAC gnomAD |
|
rs930809838 CA93711462 |
218 | F>V | No |
ClinGen TOPMed gnomAD |
|
CA356582719 rs1417477000 |
219 | I>F | No |
ClinGen TOPMed gnomAD |
|
rs779571203 CA2882746 |
222 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1159656766 CA356582762 |
223 | S>F | No |
ClinGen TOPMed |
|
rs748783981 CA2882747 |
224 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1471358856 CA356582772 |
224 | I>T | No |
ClinGen TOPMed |
|
rs1431411849 CA356582768 |
224 | I>V | No |
ClinGen gnomAD |
|
CA2882748 rs768256503 |
225 | V>L | No |
ClinGen ExAC gnomAD |
|
rs774125124 CA2882749 |
227 | G>C | No |
ClinGen ExAC gnomAD |
|
rs747870723 CA2882750 |
228 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1293664127 CA356582815 |
228 | V>I | No |
ClinGen gnomAD |
|
CA2882751 rs772563282 |
232 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs112506864 CA93711468 |
232 | W>R | No |
ClinGen Ensembl |
|
rs201149830 CA2882753 |
236 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882754 rs766823545 |
238 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1189169289 CA356582978 |
241 | S>A | No |
ClinGen gnomAD |
|
rs759508445 CA2882756 |
244 | H>R | No |
ClinGen ExAC gnomAD |
|
rs542227268 CA2882757 |
245 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA356583055 rs1486841089 |
247 | K>T | No |
ClinGen gnomAD |
|
CA356583086 rs1484981361 |
249 | M>V | No |
ClinGen Ensembl |
|
CA2882759 rs752911443 |
250 | K>E | No |
ClinGen ExAC gnomAD |
|
rs752911443 CA356583103 |
250 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA2882760 rs376945466 |
251 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs767240785 CA2882761 |
252 | L>V | No |
ClinGen ExAC gnomAD |
|
CA2882762 rs750210211 |
254 | S>T | No |
ClinGen ExAC gnomAD |
|
CA93711481 rs1014548714 |
263 | M>V | No |
ClinGen TOPMed |
|
rs1374558417 CA356583303 |
264 | D>Y | No |
ClinGen gnomAD |
|
rs10028164 CA356583322 |
266 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs10028164 CA356583323 |
266 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA356583330 rs754526763 |
267 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882766 rs754526763 |
267 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882767 rs778635997 |
268 | R>K | No |
ClinGen ExAC gnomAD |
|
CA2882793 rs746314754 |
272 | A>T | No |
ClinGen ExAC gnomAD |
|
CA93711581 rs567187564 |
272 | A>V | No |
ClinGen TOPMed |
|
rs770306430 CA2882794 |
273 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1419885417 CA356583445 |
274 | E>G | No |
ClinGen gnomAD |
|
CA93711584 rs113460656 |
276 | N>D | No |
ClinGen Ensembl |
|
CA356583479 rs1214829679 |
276 | N>K | No |
ClinGen TOPMed |
|
CA356583503 rs1409026680 |
278 | N>S | No |
ClinGen gnomAD |
|
rs762990114 CA2882796 |
281 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs950184397 CA93711588 |
285 | N>I | No |
ClinGen TOPMed |
|
rs773097725 CA2882799 |
288 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs138261553 CA356583633 |
288 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs138261553 CA2882800 |
288 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA93711592 rs867051196 |
289 | K>R | No |
ClinGen Ensembl |
|
CA2882801 rs753683702 |
291 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882802 rs759501224 |
295 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765233222 CA2882803 |
296 | Y>S | No |
ClinGen ExAC gnomAD |
|
CA2882804 rs149592017 |
298 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2882805 rs757964892 |
301 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356583808 rs757964892 |
301 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA93711597 rs144272871 |
302 | C>R | No |
ClinGen ESP gnomAD |
|
CA93711600 rs973703044 |
303 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs148718801 CA2882806 |
303 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA93711601 rs919706738 |
309 | E>K | No |
ClinGen gnomAD |
|
rs1168234354 CA356583915 |
312 | E>Q | No |
ClinGen gnomAD |
|
CA356583949 rs1350400155 |
314 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA356583971 rs1258712023 |
316 | S>C | No |
ClinGen TOPMed |
|
CA2882807 rs751106460 |
316 | S>N | No |
ClinGen ExAC gnomAD |
|
rs756946958 CA2882808 |
318 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356583997 rs1212042646 |
318 | R>S | No |
ClinGen gnomAD |
|
CA356584014 rs1577490960 |
320 | Y>F | No |
ClinGen Ensembl |
|
CA2882809 rs781361800 |
322 | E>K | No |
ClinGen ExAC gnomAD |
|
CA2882810 rs375152155 |
325 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
rs752672938 CA2882830 |
329 | R>C | No |
ClinGen ExAC gnomAD |
|
CA93712343 rs748529061 |
329 | R>H | No |
ClinGen ExAC gnomAD |
|
rs748529061 CA2882831 |
329 | R>L | No |
ClinGen ExAC gnomAD |
|
rs780868761 CA356584092 |
330 | M>K | No |
ClinGen ExAC gnomAD |
|
rs751101903 CA2882834 |
330 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882835 rs780868761 |
330 | M>T | No |
ClinGen ExAC gnomAD |
|
rs751101903 CA2882833 |
330 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882836 rs750126977 |
334 | K>M | No |
ClinGen ExAC gnomAD |
|
rs780464550 CA2882838 |
338 | E>D | No |
ClinGen ExAC gnomAD |
|
rs749732722 CA356584225 |
344 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882839 rs749732722 |
344 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755526664 CA2882840 |
347 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755526664 CA356584263 |
347 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882841 rs778812591 |
348 | P>A | No |
ClinGen ExAC gnomAD |
|
CA93712364 rs983470433 |
348 | P>L | No |
ClinGen Ensembl |
|
CA356584272 rs778812591 |
348 | P>S | No |
ClinGen ExAC gnomAD |
|
CA356584367 rs1399825261 |
355 | L>P | No |
ClinGen gnomAD |
|
rs1313575558 CA356584431 |
364 | Q>L | No |
ClinGen TOPMed |
|
rs373574051 CA2882846 |
367 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1218101115 CA356584483 |
371 | Q>R | No |
ClinGen TOPMed |
|
rs772994756 CA93712374 |
375 | M>K | No |
ClinGen Ensembl |
|
rs764121949 CA2882850 |
378 | A>V | No |
ClinGen ExAC gnomAD |
|
CA2882852 rs761365736 |
379 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356584541 rs1374696249 |
380 | A>T | No |
ClinGen gnomAD |
|
CA356584650 rs1197761442 |
385 | E>K | No |
ClinGen gnomAD |
|
rs1234681038 CA356584689 |
390 | K>Q | No |
ClinGen gnomAD |
|
rs758838287 CA2882878 |
391 | R>S | No |
ClinGen ExAC gnomAD |
|
CA2882879 rs777950063 |
392 | S>N | No |
ClinGen ExAC gnomAD |
|
rs781540546 CA2882882 |
394 | V>G | No |
ClinGen ExAC gnomAD |
|
CA93712572 rs914869530 |
399 | H>R | No |
ClinGen Ensembl |
|
rs748063907 CA2882886 |
400 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751622285 CA93712578 |
404 | S>C | No |
ClinGen Ensembl |
|
CA356584790 rs1473423294 |
405 | S>F | No |
ClinGen TOPMed |
|
CA93712588 rs927372951 |
411 | H>Y | No |
ClinGen TOPMed |
|
rs1185888570 CA356584834 |
412 | K>E | No |
ClinGen TOPMed |
|
rs760150725 CA2882889 |
416 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1378370698 CA356584884 |
417 | K>N | No |
ClinGen gnomAD |
|
CA2882905 rs556465364 |
418 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA356584914 rs1413114673 |
422 | E>Q | No |
ClinGen TOPMed |
|
CA93712635 rs111334428 |
423 | L>S | No |
ClinGen Ensembl |
|
rs777668521 CA2882907 |
425 | T>A | No |
ClinGen ExAC gnomAD |
|
CA2882908 rs747013033 |
428 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA93712641 rs191916227 |
429 | E>A | No |
ClinGen 1000Genomes |
|
rs1299400467 CA356584964 |
430 | R>* | No |
ClinGen gnomAD |
|
rs1376934772 CA356584965 |
430 | R>Q | No |
ClinGen gnomAD |
|
CA2882909 rs770359539 |
433 | R>H | No |
ClinGen ExAC gnomAD |
|
CA2882910 rs770359539 |
433 | R>L | No |
ClinGen ExAC gnomAD |
|
rs866045652 CA93712647 |
434 | W>* | No |
ClinGen Ensembl |
|
rs1018897804 CA93712650 |
436 | Q>L | No |
ClinGen gnomAD |
|
rs1350652603 CA356585036 |
440 | I>T | No |
ClinGen gnomAD |
|
CA356585059 rs1407601779 |
443 | F>L | No |
ClinGen TOPMed |
|
rs763385147 CA356585071 |
445 | I>K | No |
ClinGen ExAC gnomAD |
|
rs763385147 CA2882914 |
445 | I>R | No |
ClinGen ExAC gnomAD |
|
CA2882913 rs748731448 |
445 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356585077 rs1241542938 |
446 | A>D | No |
ClinGen gnomAD |
|
CA2882915 rs140811417 |
447 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1457401458 CA356585135 |
455 | T>N | No |
ClinGen gnomAD |
|
rs767577020 CA2882918 |
456 | S>F | No |
ClinGen ExAC gnomAD |
|
CA2882919 rs149693330 |
458 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2882920 rs756324326 |
460 | S>C | No |
ClinGen ExAC gnomAD |
|
rs374862281 CA2882921 |
461 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1172038648 CA356585186 |
463 | S>T | No |
ClinGen gnomAD |
|
CA2882922 rs754112174 |
464 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA93712669 rs980528029 |
467 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA93712667 rs535251864 |
467 | M>R | No |
ClinGen 1000Genomes |
|
rs777545959 CA2882924 |
473 | P>A | No |
ClinGen ExAC gnomAD |
|
rs369199067 CA2882925 |
475 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356585263 rs369199067 |
475 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356585272 rs1365878161 |
476 | P>L | No |
ClinGen gnomAD |
|
rs1274039178 CA356585277 |
477 | I>N | No |
ClinGen gnomAD |
|
CA2882926 rs200776417 |
477 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356585281 rs1420505485 |
478 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1469774300 CA356585301 |
481 | V>A | No |
ClinGen gnomAD |
|
CA356585299 rs1275052726 |
481 | V>F | No |
ClinGen TOPMed gnomAD |
|
CA356585297 rs1275052726 |
481 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA356585315 rs1245946250 |
483 | D>G | No |
ClinGen gnomAD |
|
CA2882930 rs774991626 |
485 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1435151450 CA356585354 |
488 | T>I | No |
ClinGen TOPMed |
|
CA93712689 rs952660796 |
489 | P>L | No |
ClinGen TOPMed |
|
CA2882932 rs182507259 |
491 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs145490820 CA93712693 |
492 | V>A | No |
ClinGen ESP TOPMed |
|
CA93712694 rs112062184 |
493 | S>P | No |
ClinGen Ensembl |
|
CA356585382 rs1453660749 |
494 | Q>K | No |
ClinGen TOPMed |
|
rs1167923982 CA356585386 |
494 | Q>R | No |
ClinGen gnomAD |
|
CA356585403 rs1484799725 |
496 | P>L | No |
ClinGen TOPMed |
|
rs778329352 CA2882934 |
497 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356585421 rs1577500206 |
498 | T>P | No |
ClinGen Ensembl |
|
rs1311375416 CA356585431 |
499 | M>T | No |
ClinGen TOPMed |
|
rs1434493275 CA356585440 |
500 | A>G | No |
ClinGen TOPMed |
|
CA356585448 rs1560242098 |
501 | K>N | No |
ClinGen Ensembl |
|
CA356585452 rs1293024276 |
502 | P>S | No |
ClinGen gnomAD |
|
CA93714165 rs1032065039 |
504 | G>E | No |
ClinGen TOPMed |
|
rs1197872025 CA356585470 |
505 | S>L | No |
ClinGen Ensembl |
|
CA2882951 rs113180595 |
506 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA356585475 rs1408254584 |
506 | L>S | No |
ClinGen TOPMed |
|
CA2882952 rs774818363 |
507 | A>D | No |
ClinGen ExAC gnomAD |
|
rs910661162 CA93714170 |
510 | S>G | No |
ClinGen TOPMed |
|
rs772541032 CA2882954 |
510 | S>T | No |
ClinGen ExAC gnomAD |
|
CA2882955 rs773582601 |
514 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1049239912 CA93714173 |
514 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA2882956 rs761245104 |
516 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882957 rs140734561 |
516 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
CA2882958 rs760297373 |
517 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356585542 rs760297373 |
517 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882959 rs73251774 |
517 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA356585550 rs1366142873 |
518 | S>I | No |
ClinGen gnomAD |
|
CA2882961 rs765413572 |
520 | V>L | No |
ClinGen ExAC gnomAD |
|
rs765413572 CA356585560 |
520 | V>M | No |
ClinGen ExAC gnomAD |
|
rs761253528 CA2882963 |
521 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882964 rs761253528 |
521 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752964490 CA2882962 |
521 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356585572 rs1418309193 |
522 | S>C | No |
ClinGen gnomAD |
|
CA2882966 rs370564030 |
523 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2882968 rs753432538 |
524 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1337563225 CA356585588 |
525 | Q>R | No |
ClinGen gnomAD |
|
CA2882970 rs754578090 |
528 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882969 rs754578090 |
528 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs141922019 CA2882971 |
528 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
rs141922019 CA93714185 |
528 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
CA93714187 rs1020888544 |
529 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1237769649 CA356585616 |
530 | Q>R | No |
ClinGen gnomAD |
|
CA356585625 rs1257467789 |
531 | L>P | No |
ClinGen gnomAD |
|
rs1345297103 CA356585628 |
532 | A>S | No |
ClinGen gnomAD |
|
CA2882973 rs778209965 |
533 | P>L | No |
ClinGen ExAC gnomAD |
|
CA2882972 rs559835870 |
533 | P>S | No |
ClinGen 1000Genomes ExAC |
|
CA356585639 rs1407185854 |
534 | H>P | No |
ClinGen TOPMed |
|
CA2882975 rs150222188 |
534 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA356585640 rs1407185854 |
534 | H>R | No |
ClinGen TOPMed |
|
rs1178692719 CA356585645 |
535 | A>D | No |
ClinGen TOPMed gnomAD |
|
CA356585646 rs1178692719 |
535 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA2882976 rs551838879 |
535 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA356585652 rs571663629 |
536 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2882977 rs571663629 |
536 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2882980 rs150975796 |
537 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA356585654 rs1577500383 |
537 | H>P | No |
ClinGen Ensembl |
|
CA2882979 rs150975796 |
537 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs767160624 CA2882981 |
538 | P>A | No |
ClinGen ExAC gnomAD |
|
CA2882982 rs200847867 |
538 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs747029301 CA93714198 |
540 | H>Y | No |
ClinGen gnomAD |
|
rs766389217 CA2882984 |
541 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2882986 rs143107481 |
542 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2882985 rs753878084 |
542 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356585687 rs1560242297 |
543 | H>P | No |
ClinGen Ensembl |
|
CA2882988 rs778636017 |
547 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778636017 CA2882987 |
547 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs371154629 CA2882990 |
548 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
CA2882992 rs139856611 |
551 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA93714205 rs1031951403 |
551 | P>S | No |
ClinGen TOPMed |
|
rs781654147 CA2882993 |
552 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1198800157 CA356585755 |
553 | S>F | No |
ClinGen gnomAD |
|
CA2882995 rs144093498 |
556 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA93714210 rs764914346 |
557 | P>A | No |
ClinGen gnomAD |
|
CA2882997 rs763036602 |
558 | D>H | No |
ClinGen ExAC gnomAD |
|
CA356585786 rs768955451 |
559 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768955451 CA2882998 |
559 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1370209711 CA356585792 |
560 | D>H | No |
ClinGen gnomAD |
|
rs774478254 CA2882999 |
561 | I>T | No |
ClinGen ExAC gnomAD |
|
rs758210883 CA93714215 |
563 | S>L | No |
ClinGen Ensembl |
|
CA356585816 rs1170070824 |
564 | V>M | No |
ClinGen gnomAD |
|
CA2883001 rs766337823 |
565 | S>* | No |
ClinGen ExAC gnomAD |
|
CA2883002 rs776710635 |
566 | S>R | No |
ClinGen ExAC gnomAD |
|
CA2883004 rs764787780 |
569 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757883766 CA2883006 |
571 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763776616 CA2883007 |
572 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763776616 CA356585868 |
572 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751227260 CA2883008 |
573 | N>S | No |
ClinGen ExAC gnomAD |
|
CA356585877 rs1223091860 |
574 | E>K | No |
ClinGen gnomAD |
|
CA356585889 rs1212538915 |
575 | E>G | No |
ClinGen TOPMed |
|
rs943520700 CA93714223 |
577 | E>K | No |
ClinGen Ensembl |
|
CA356585908 rs1488436619 |
578 | E>K | No |
ClinGen gnomAD |
|
rs1553855805 CA356585919 |
579 | A>D | No |
ClinGen Ensembl |
|
rs1265717828 CA356585917 |
579 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs1265717828 CA356585916 |
579 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1396016056 CA356585939 |
582 | F>L | No |
ClinGen gnomAD |
|
rs756638003 CA2883012 |
583 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356585959 rs1193166572 |
585 | E>A | No |
ClinGen gnomAD |
|
CA2883052 rs761015663 |
589 | E>G | No |
ClinGen ExAC gnomAD |
|
CA93714963 rs895651219 |
589 | E>K | No |
ClinGen Ensembl |
|
CA2883054 rs754307203 |
593 | T>R | No |
ClinGen ExAC gnomAD |
|
rs755457280 CA2883055 |
596 | E>K | No |
ClinGen ExAC gnomAD |
|
rs779007168 CA2883056 |
596 | E>V | No |
ClinGen ExAC gnomAD |
|
CA93714969 rs554839491 |
597 | C>R | No |
ClinGen 1000Genomes |
|
rs752789594 CA2883057 |
598 | D>G | No |
ClinGen ExAC gnomAD |
|
rs138416647 CA2883058 |
599 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs778125021 CA2883059 |
600 | L>F | No |
ClinGen ExAC |
|
CA93714974 rs898850102 |
602 | S>Y | No |
ClinGen Ensembl |
|
rs151194488 CA2883062 |
603 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200782524 CA2883063 |
605 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356586726 rs1319279915 |
605 | G>V | No |
ClinGen gnomAD |
|
CA2883065 rs774312925 |
606 | R>K | No |
ClinGen ExAC gnomAD |
|
rs1380502880 CA356586735 |
607 | K>Q | No |
ClinGen gnomAD |
|
CA93714980 rs1028588423 |
607 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA2883067 rs771630845 |
609 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA2883068 rs772850099 |
611 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1315085662 CA356586764 |
612 | L>I | No |
ClinGen TOPMed |
|
rs766712491 CA2883071 |
615 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA93714985 rs750543457 |
615 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs759981562 CA2883073 |
617 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356586798 rs759981562 |
617 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1417757108 CA356586818 |
619 | T>I | No |
ClinGen gnomAD |
|
rs777285458 CA2883077 |
621 | S>F | No |
ClinGen ExAC gnomAD |
|
rs758545658 CA2883076 |
621 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758545658 CA356586826 |
621 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368630622 CA2883078 |
622 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1366485319 CA356586832 |
622 | P>S | No |
ClinGen gnomAD |
|
CA356586836 rs1308963533 |
623 | R>* | No |
ClinGen gnomAD |
|
rs371582371 CA2883080 |
623 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1332011711 CA356586853 |
625 | I>M | No |
ClinGen gnomAD |
|
CA356586864 rs1395664752 |
627 | R>K | No |
ClinGen gnomAD |
|
CA2883081 rs749005161 |
628 | D>V | No |
ClinGen ExAC gnomAD |
|
rs768546472 CA2883082 |
629 | E>K | No |
ClinGen ExAC gnomAD |
|
rs772725492 CA2883086 |
637 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1479943043 CA356586932 |
638 | G>R | No |
ClinGen gnomAD |
|
rs1478271481 CA356586940 |
639 | D>G | No |
ClinGen TOPMed |
|
CA356586936 rs1212010982 |
639 | D>N | No |
ClinGen gnomAD |
|
CA356586937 rs1212010982 |
639 | D>Y | No |
ClinGen gnomAD |
|
CA2883088 rs377370453 |
640 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356586968 rs1241485177 |
644 | V>L | No |
ClinGen TOPMed |
|
rs763567286 CA2883093 |
645 | D>N | No |
ClinGen ExAC gnomAD |
|
CA356586980 rs1169816763 |
646 | V>M | No |
ClinGen gnomAD |
|
rs1372434428 CA356587001 |
649 | G>S | No |
ClinGen gnomAD |
|
rs764219641 CA2883094 |
650 | S>P | No |
ClinGen ExAC gnomAD |
|
CA356587021 rs1222451461 |
652 | D>G | No |
ClinGen TOPMed |
|
rs757398904 CA2883096 |
652 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs186274200 CA93715015 |
653 | C>W | No |
ClinGen 1000Genomes |
|
CA93715017 rs930028329 |
654 | V>A | No |
ClinGen TOPMed |
|
CA356587034 rs1410686511 |
654 | V>L | No |
ClinGen gnomAD |
|
CA356587039 rs1300962620 |
655 | G>C | No |
ClinGen gnomAD |
|
CA356587038 rs1300962620 |
655 | G>R | No |
ClinGen gnomAD |
|
CA93715018 rs969346727 |
655 | G>V | No |
ClinGen Ensembl |
|
rs146426799 CA2883097 |
657 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2883098 rs531937020 |
659 | T>S | No |
ClinGen 1000Genomes ExAC |
|
rs1294157011 CA356587071 |
660 | K>N | No |
ClinGen gnomAD |
|
rs758597494 CA93715022 |
663 | I>S | No |
ClinGen Ensembl |
|
CA356587091 rs1212345112 |
663 | I>V | No |
ClinGen TOPMed |
|
CA2883099 rs754726697 |
664 | F>V | No |
ClinGen ExAC gnomAD |
|
CA93715025 rs927241762 |
665 | S>G | No |
ClinGen TOPMed gnomAD |
|
CA356587120 rs1159026783 |
667 | A>G | No |
ClinGen gnomAD |
|
CA356587124 rs1220698308 |
668 | S>C | No |
ClinGen gnomAD |
|
CA2883101 rs748023356 |
668 | S>N | No |
ClinGen ExAC gnomAD |
|
CA2883102 rs770321321 |
672 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199899002 CA2883103 |
672 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA356587178 rs1426693734 |
676 | E>Q | No |
ClinGen gnomAD |
|
rs140768028 CA93715031 |
678 | S>T | No |
ClinGen ESP TOPMed |
|
rs746474550 CA2883104 |
679 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs182543204 CA2883105 |
680 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs745537137 CA2883107 |
681 | M>T | No |
ClinGen ExAC gnomAD |
|
CA356587224 rs1462640773 |
682 | N>S | No |
ClinGen TOPMed |
|
rs1362070320 CA356587232 |
683 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA93715034 rs917116568 |
688 | I>L | No |
ClinGen Ensembl |
|
rs1419872267 CA356587267 |
688 | I>M | No |
ClinGen gnomAD |
|
CA2883109 rs776018804 |
689 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356587271 rs776018804 |
689 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2883108 rs370990239 |
689 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA93715038 rs186602217 |
691 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs186602217 CA2883110 |
691 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs142749005 CA2883112 |
694 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2883113 rs150484445 |
694 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356587299 rs150484445 |
694 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356587300 rs1215280672 |
695 | H>N | No |
ClinGen gnomAD |
|
rs773930630 CA93715042 |
695 | H>R | No |
ClinGen Ensembl |
|
CA356587336 rs1182508753 |
700 | S>L | No |
ClinGen gnomAD |
|
rs373113749 CA93715045 |
703 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356587356 rs1443861055 |
703 | N>T | No |
ClinGen gnomAD |
|
CA2883117 rs764965234 |
704 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764965234 CA356587359 |
704 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356587369 rs1400968113 |
705 | S>T | No |
ClinGen gnomAD |
|
rs758234102 CA2883119 |
713 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758234102 CA356587421 |
713 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356587433 rs1467191514 |
714 | V>A | No |
ClinGen gnomAD |
|
CA2883120 rs147362228 |
716 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA356587442 rs147362228 |
716 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA356587464 rs1406006983 |
719 | S>N | No |
ClinGen gnomAD |
|
rs1451033166 CA356587471 |
720 | I>V | No |
ClinGen gnomAD |
|
CA356587480 rs1311958564 |
721 | P>L | No |
ClinGen gnomAD |
|
CA93715052 rs1008630038 |
721 | P>S | No |
ClinGen Ensembl |
|
rs549938218 CA2883121 |
722 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs756653388 CA2883122 |
724 | L>F | No |
ClinGen ExAC gnomAD |
|
CA356587513 rs1314161288 |
726 | H>L | No |
ClinGen gnomAD |
|
rs1314161288 CA356587512 |
726 | H>R | No |
ClinGen gnomAD |
|
rs892184465 CA93715055 |
726 | H>Y | No |
ClinGen gnomAD |
|
rs1381251605 CA356587525 |
728 | G>R | No |
ClinGen TOPMed |
|
rs772003238 CA93715057 |
730 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA356587549 rs1262528004 |
731 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA356587550 rs1262528004 |
731 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs570017447 CA2883125 |
733 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA356587572 rs1470420787 |
734 | P>L | No |
ClinGen gnomAD |
|
CA2883126 rs369045286 |
734 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1176403943 CA356587588 |
737 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1405347502 CA356587594 |
738 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA2883127 rs749649077 |
739 | S>I | No |
ClinGen ExAC gnomAD |
|
rs769201706 CA356587607 |
739 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769201706 CA2883128 |
739 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774717896 CA2883129 |
743 | K>R | No |
ClinGen ExAC gnomAD |
|
CA2883131 rs143367720 |
745 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs143367720 CA356587660 |
745 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q9P246
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR15136 | STROMAL INTERACTION MOLECULE HOMOLOG |
PANTHER Subfamily | PTHR15136:SF2 | STROMAL INTERACTION MOLECULE 2 |
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
4 GO annotations of cellular component
Name | Definition |
---|---|
endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
integral component of membrane | The component of a 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 regulator activity | Modulates the activity of a calcium channel. |
calcium ion binding | Binding to a calcium ion (Ca2+). |
store-operated calcium channel activity | A ligand-gated ion channel activity which transports calcium in response to emptying of intracellular calcium stores. |
4 GO annotations of biological process
Name | Definition |
---|---|
activation of store-operated calcium channel activity | A process that initiates the activity of an inactive store-operated calcium channel. |
cellular calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. |
positive regulation of calcium ion transport | Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
store-operated calcium entry | A calcium ion entry mechanism in the plasma membrane activated by the depletion of calcium ion from the internal calcium ion store in the endoplasmic reticulum. |
4 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P83094 | Stim | Stromal interaction molecule homolog | Drosophila melanogaster (Fruit fly) | SS |
Q13586 | STIM1 | Stromal interaction molecule 1 | Homo sapiens (Human) | EV |
P83093 | Stim2 | Stromal interaction molecule 2 | Mus musculus (Mouse) | SS |
G5EF60 | stim-1 | Stromal interaction molecule 1 | Caenorhabditis elegans | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MLVLGLLVAG | AADGCELVPR | HLRGRRATGS | AATAASSPAA | AAGDSPALMT | DPCMSLSPPC |
70 | 80 | 90 | 100 | 110 | 120 |
FTEEDRFSLE | ALQTIHKQMD | DDKDGGIEVE | ESDEFIREDM | KYKDATNKHS | HLHREDKHIT |
130 | 140 | 150 | 160 | 170 | 180 |
IEDLWKRWKT | SEVHNWTLED | TLQWLIEFVE | LPQYEKNFRD | NNVKGTTLPR | IAVHEPSFMI |
190 | 200 | 210 | 220 | 230 | 240 |
SQLKISDRSH | RQKLQLKALD | VVLFGPLTRP | PHNWMKDFIL | TVSIVIGVGG | CWFAYTQNKT |
250 | 260 | 270 | 280 | 290 | 300 |
SKEHVAKMMK | DLESLQTAEQ | SLMDLQERLE | KAQEENRNVA | VEKQNLERKM | MDEINYAKEE |
310 | 320 | 330 | 340 | 350 | 360 |
ACRLRELREG | AECELSRRQY | AEQELEQVRM | ALKKAEKEFE | LRSSWSVPDA | LQKWLQLTHE |
370 | 380 | 390 | 400 | 410 | 420 |
VEVQYYNIKR | QNAEMQLAIA | KDEAEKIKKK | RSTVFGTLHV | AHSSSLDEVD | HKILEAKKAL |
430 | 440 | 450 | 460 | 470 | 480 |
SELTTCLRER | LFRWQQIEKI | CGFQIAHNSG | LPSLTSSLYS | DHSWVVMPRV | SIPPYPIAGG |
490 | 500 | 510 | 520 | 530 | 540 |
VDDLDEDTPP | IVSQFPGTMA | KPPGSLARSS | SLCRSRRSIV | PSSPQPQRAQ | LAPHAPHPSH |
550 | 560 | 570 | 580 | 590 | 600 |
PRHPHHPQHT | PHSLPSPDPD | ILSVSSCPAL | YRNEEEEEAI | YFSAEKQWEV | PDTASECDSL |
610 | 620 | 630 | 640 | 650 | 660 |
NSSIGRKQSP | PLSLEIYQTL | SPRKISRDEV | SLEDSSRGDS | PVTVDVSWGS | PDCVGLTETK |
670 | 680 | 690 | 700 | 710 | 720 |
SMIFSPASKV | YNGILEKSCS | MNQLSSGIPV | PKPRHTSCSS | AGNDSKPVQE | APSVARISSI |
730 | 740 | ||||
PHDLCHNGEK | SKKPSKIKSL | FKKKSK |