Q8IWX8
PR
Gene name |
CHERP |
Protein name |
Calcium homeostasis endoplasmic reticulum protein |
Names |
ERPROT 213-21, SR-related CTD-associated factor 6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10523 |
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 Q8IWX8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IWX8-F1 | Predicted | AlphaFoldDB |
619 variants for Q8IWX8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs200777660 COSM3796737 CA9279972 |
2 | E>D | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1297684880 CA404632160 |
2 | E>K | No |
ClinGen gnomAD |
|
|
CA404632140 rs1361392090 |
3 | M>I | No |
ClinGen gnomAD |
|
|
CA404632148 rs1393625003 |
3 | M>L | No |
ClinGen TOPMed |
|
|
rs1411178298 CA404632143 |
3 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 3 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404632132 rs1329072839 |
4 | P>S | No |
ClinGen TOPMed |
|
|
CA404632113 rs1357502516 |
6 | P>S | No |
ClinGen gnomAD |
|
|
rs755702514 CA9279969 |
7 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA305988464 rs757369130 |
9 | D>E | No |
ClinGen Ensembl |
|
|
rs1324366814 CA404632083 |
9 | D>N | No |
ClinGen TOPMed |
|
|
CA404631871 rs1327621491 |
24 | A>G | No |
ClinGen gnomAD |
|
|
rs779916331 CA404631859 |
26 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1599757560 CA404631848 |
26 | N>K | No |
ClinGen Ensembl |
|
|
rs779916331 CA9279934 |
26 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA404631830 rs1407652411 |
28 | P>R | No |
ClinGen gnomAD |
|
|
CA404631810 rs1599757525 |
30 | F>V | No |
ClinGen Ensembl |
|
|
rs769631033 CA9279933 |
35 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA404631735 rs1368687447 |
36 | E>D | No |
ClinGen TOPMed |
|
|
CA404631738 rs1599757487 |
36 | E>G | No |
ClinGen Ensembl |
|
|
CA404631741 rs1479714715 |
36 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs11539313 CA305988438 |
42 | P>T | No |
ClinGen Ensembl |
|
|
rs751303333 CA9279929 |
45 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA404631581 rs1461857315 |
50 | G>S | No |
ClinGen gnomAD |
|
|
CA9279925 rs370270417 |
54 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 55 | Y>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 60 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305988344 rs992524837 |
61 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1423387216 CA404630986 |
68 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1188261777 CA404630964 |
71 | Q>H | No |
ClinGen gnomAD |
|
|
CA9279912 rs575760625 |
71 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404630960 rs1484829122 |
72 | Q>* | No |
ClinGen gnomAD |
|
|
rs1262206636 CA404630951 |
73 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA404630953 rs1599754242 |
73 | T>P | No |
ClinGen Ensembl |
|
|
rs1053636095 CA305976345 |
74 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 74 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404630943 rs1244743709 |
75 | E>K | No |
ClinGen gnomAD |
|
|
rs1297031588 CA404630930 |
77 | E>K | No |
ClinGen gnomAD |
|
|
rs1216864363 CA404630921 |
78 | P>A | No |
ClinGen gnomAD |
|
|
rs756622888 CA9279907 |
80 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs967128147 CA305976327 |
82 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA404630897 rs1332098519 |
82 | M>L | No |
ClinGen TOPMed |
|
|
rs1438927071 CA404630889 |
83 | P>S | No |
ClinGen TOPMed |
|
|
rs757277298 CA9279904 |
86 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568263805 CA404630863 |
87 | Q>H | No |
ClinGen Ensembl |
|
|
rs1172535436 CA404630865 |
87 | Q>R | No |
ClinGen gnomAD |
|
|
rs1422901278 CA404630856 |
88 | P>L | No |
ClinGen gnomAD |
|
|
CA404630859 rs1426675555 |
88 | P>S | No |
ClinGen gnomAD |
|
|
CA9279903 rs751650036 |
89 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481316272 CA404630855 |
89 | P>S | No |
ClinGen gnomAD |
|
|
rs1480733636 CA404630850 |
90 | L>M | No |
ClinGen gnomAD |
|
|
CA404630847 rs1252561299 |
90 | L>P | No |
ClinGen gnomAD |
|
|
rs951068317 CA305976268 |
91 | A>P | No |
ClinGen Ensembl |
|
|
rs764233307 CA9279902 |
91 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306405599 CA404630841 |
92 | P>S | No |
ClinGen gnomAD |
|
|
rs775337450 CA9279900 |
93 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9279898 rs201715957 |
94 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776390119 CA9279897 |
94 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300102967 CA404630826 |
95 | P>T | No |
ClinGen gnomAD |
|
|
CA9279894 rs772925251 |
96 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9279893 rs771837058 |
97 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA404630794 rs771837058 |
97 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780439457 CA9279891 |
98 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404630784 rs1470885996 |
98 | P>S | No |
ClinGen gnomAD |
|
|
CA404630732 rs1417191304 |
101 | G>D | No |
ClinGen TOPMed |
|
|
CA9279889 rs199553205 |
102 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9279888 rs781490948 |
102 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404630691 rs1456962529 |
104 | S>F | No |
ClinGen gnomAD |
|
|
rs1263196758 CA404630673 |
105 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA305976143 rs900864534 |
107 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA305976156 rs900864534 |
107 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs751631259 CA9279886 |
108 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA404630599 rs1336720535 |
110 | Q>* | No |
ClinGen gnomAD |
|
|
CA305976121 rs942072981 |
110 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1309468289 CA404630559 |
112 | S>N | No |
ClinGen gnomAD |
|
|
rs764212681 CA9279885 |
113 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA305976098 rs909215357 |
124 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs553167867 CA305976093 |
125 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9279883 rs752902150 |
125 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs553167867 CA9279882 |
125 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1271060765 CA404630003 |
129 | E>K | No |
ClinGen TOPMed |
|
|
rs545026843 CA305973837 |
133 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA404629969 rs1196515631 |
134 | A>T | No |
ClinGen gnomAD |
|
|
CA404629965 rs1341555394 |
134 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1599752825 CA404629961 |
135 | V>G | No |
ClinGen Ensembl |
|
|
CA9279848 rs748173203 |
135 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404629959 rs1345931739 |
136 | A>T | No |
ClinGen gnomAD |
|
|
rs755134194 CA9279846 |
137 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404629946 rs1329106825 |
138 | A>T | No |
ClinGen gnomAD |
|
|
CA404629941 rs1164936555 |
138 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA305973774 rs76440060 |
139 | V>G | No |
ClinGen Ensembl |
|
|
rs1430467638 CA404629909 |
143 | M>L | No |
ClinGen gnomAD |
|
|
rs1430467638 CA404629910 |
143 | M>V | No |
ClinGen gnomAD |
|
|
CA9279843 rs755926670 |
145 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA404629888 rs1477171536 |
145 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA404629857 rs1182760472 |
150 | T>N | No |
ClinGen gnomAD |
|
|
rs866744075 CA305973764 |
153 | D>Y | No |
ClinGen Ensembl |
|
|
CA9279841 rs767492955 |
154 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA404629820 CA9279840 rs370431070 |
155 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404629819 rs1324097064 |
156 | E>K | No |
ClinGen gnomAD |
|
|
CA404629810 rs1264781624 |
157 | F>L | No |
ClinGen gnomAD |
|
|
CA305973735 rs867723616 |
160 | L>I | No |
ClinGen Ensembl |
|
|
rs1279816391 CA404629765 |
163 | P>H | No |
ClinGen gnomAD |
|
|
CA305973731 rs866843022 |
163 | P>S | No |
ClinGen Ensembl |
|
|
CA305973726 rs866308834 |
166 | D>E | No |
ClinGen Ensembl |
|
|
CA404629750 rs1330044002 |
166 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs969208622 CA305973723 |
167 | T>M | No |
ClinGen TOPMed |
|
|
CA404629735 rs1407408762 |
168 | C>Y | No |
ClinGen gnomAD |
|
|
rs1178860872 CA404629705 |
171 | D>N | No |
ClinGen gnomAD |
|
|
CA404629688 rs1424872215 |
172 | A>T | No |
ClinGen gnomAD |
|
|
rs867414826 CA305973685 |
174 | S>* | No |
ClinGen gnomAD |
|
|
rs867414826 CA404629661 |
174 | S>L | No |
ClinGen gnomAD |
|
| rs979592645 | 175 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9279811 rs762120150 |
176 | G>R | Variant assessed as Somatic; 4.808e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
TCGA novel CA404629218 rs181251989 |
181 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen 1000Genomes gnomAD |
|
CA404629212 rs1599752601 |
182 | S>G | No |
ClinGen Ensembl |
|
|
rs372186476 CA9279809 COSM3388681 |
183 | N>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 184 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9279808 rs749316584 |
185 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275278779 CA404629146 |
186 | S>P | No |
ClinGen gnomAD |
|
|
rs1275278779 CA404629147 |
186 | S>T | No |
ClinGen gnomAD |
|
|
rs775775971 CA9279807 |
187 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770925951 CA305973318 |
187 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770925951 CA305973319 |
187 | P>R | No |
ClinGen gnomAD |
|
|
CA9279805 rs375980525 |
188 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746801493 CA9279802 |
189 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1599752556 CA404629005 |
194 | A>P | No |
ClinGen Ensembl |
|
|
CA305973268 rs867543099 |
195 | G>D | No |
ClinGen gnomAD |
|
|
rs199947595 CA9279800 |
195 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404628975 rs1599752542 |
196 | H>P | No |
ClinGen Ensembl |
|
|
rs764778449 CA9279798 |
198 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9279799 rs527535661 |
198 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA305973253 VAR_034833 rs1043448 |
199 | N>H | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA404628910 rs1277919547 |
200 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1471089 rs368216200 CA9279796 |
200 | R>H | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1369933907 CA404628874 |
202 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305973230 rs987044228 |
206 | A>T | No |
ClinGen TOPMed |
|
|
rs1355159981 CA404628777 |
210 | L>V | No |
ClinGen gnomAD |
|
|
CA9279791 rs763609814 |
215 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1030110406 CA305973218 |
216 | Y>C | No |
ClinGen Ensembl |
|
|
CA404628714 rs1264909914 |
220 | D>Y | No |
ClinGen gnomAD |
|
|
CA9279788 rs777596897 |
221 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 223 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305971332 rs868127675 |
230 | A>V | No |
ClinGen gnomAD |
|
|
CA404628411 rs774200505 |
231 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9279745 rs774200505 |
231 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs867789133 CA305971326 |
231 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404628313 rs1599751365 |
237 | L>P | No |
ClinGen Ensembl |
|
|
rs1599751354 CA404628242 |
240 | V>G | No |
ClinGen Ensembl |
|
|
rs1488049235 CA404628196 |
242 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 247 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219147443 CA404628026 |
255 | D>Y | No |
ClinGen gnomAD |
|
|
rs935661382 CA305971298 |
262 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1280423038 CA404627042 |
271 | G>S | No |
ClinGen gnomAD |
|
|
rs767635590 CA9279708 |
271 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA9279707 rs757436441 |
272 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1599751200 CA404627021 |
273 | F>L | No |
ClinGen Ensembl |
|
|
rs993796545 CA305971082 |
274 | D>N | No |
ClinGen gnomAD |
|
|
CA9279705 rs764395581 |
277 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 282 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375137389 CA404626604 |
288 | L>F | No |
ClinGen gnomAD |
|
|
rs1568508680 CA404626571 |
289 | G>V | No |
ClinGen Ensembl |
|
|
CA9279682 rs753781070 |
293 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404625845 rs1411628635 |
297 | N>D | No |
ClinGen gnomAD |
|
|
CA305970429 rs768280063 |
297 | N>S | No |
ClinGen Ensembl |
|
|
rs746077450 CA305970416 |
298 | E>K | No |
ClinGen Ensembl |
|
|
rs917284577 CA305970414 |
299 | Y>C | No |
ClinGen TOPMed |
|
|
CA404625704 rs917284577 |
299 | Y>S | No |
ClinGen TOPMed |
|
|
CA9279679 rs772847505 |
300 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA404625580 rs1355258644 |
302 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1599750828 CA404625513 |
303 | V>A | No |
ClinGen Ensembl |
|
|
rs1402095599 CA404625398 |
305 | P>A | No |
ClinGen gnomAD |
|
|
CA9279676 rs374070835 |
306 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404625286 rs1239533977 |
307 | Q>H | No |
ClinGen Ensembl |
|
|
rs1424835394 CA404625269 |
308 | L>P | No |
ClinGen TOPMed |
|
|
CA404625125 rs1461214502 |
311 | Q>R | No |
ClinGen TOPMed |
|
|
rs913754416 CA305970392 |
314 | I>F | No |
ClinGen TOPMed |
|
|
rs781619096 CA9279673 |
315 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599750798 CA404624926 |
316 | T>P | No |
ClinGen Ensembl |
|
|
rs183319111 CA9279672 |
317 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9279670 rs777964982 |
319 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777964982 CA404624777 |
319 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779300334 CA9279667 |
322 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354619794 CA404624615 |
324 | F>S | No |
ClinGen TOPMed |
|
|
rs1295054054 CA404624566 |
325 | V>A | No |
ClinGen TOPMed |
|
|
rs754763680 CA9279666 |
325 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373137182 CA404624463 |
327 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1220922551 CA404624418 |
329 | A>T | No |
ClinGen gnomAD |
|
|
CA404624386 rs1316414716 |
330 | Q>R | No |
ClinGen gnomAD |
|
|
CA305970328 rs1034007484 |
332 | Q>K | No |
ClinGen Ensembl |
|
|
rs528619775 CA404624162 |
336 | Q>H | No |
ClinGen 1000Genomes TOPMed |
|
|
rs761263861 CA9279654 |
339 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1027771704 CA305970221 |
340 | Q>K | No |
ClinGen Ensembl |
|
|
CA404624003 rs1372237435 |
344 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA305970189 rs993596466 |
344 | M>V | No |
ClinGen Ensembl |
|
|
CA404623984 rs1434473441 |
345 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9279645 rs774002928 |
345 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA404623960 rs1192526747 |
347 | M>V | No |
ClinGen gnomAD |
|
|
rs58473148 CA305970173 |
348 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404623913 rs1239362295 |
349 | A>T | No |
ClinGen gnomAD |
|
|
rs1201051084 CA404623900 |
349 | A>V | No |
ClinGen gnomAD |
|
|
CA9279642 rs374335460 |
354 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305970159 rs1009470809 |
355 | P>S | No |
ClinGen Ensembl |
|
|
CA404623783 rs1314109893 |
356 | P>L | No |
ClinGen gnomAD |
|
|
rs1314109893 CA404623787 |
356 | P>Q | No |
ClinGen gnomAD |
|
|
CA9279638 rs772150981 |
357 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773134390 CA9279639 |
357 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773134390 CA404623781 |
357 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404623762 rs1444425238 |
359 | A>T | No |
ClinGen gnomAD |
|
|
CA305970141 rs932363153 |
360 | P>L | No |
ClinGen gnomAD |
|
|
rs1362520099 CA404623755 |
360 | P>T | No |
ClinGen TOPMed |
|
|
rs779210252 CA9279636 |
361 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs532235225 CA9279634 |
362 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404623744 rs532235225 |
362 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755320780 CA9279635 |
362 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1043349288 CA305970113 |
363 | A>S | No |
ClinGen Ensembl |
|
|
CA404623731 rs1381576943 |
364 | P>L | No |
ClinGen gnomAD |
|
|
rs750338607 CA9279631 |
365 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404623706 rs1201448675 |
369 | A>P | No |
ClinGen gnomAD |
|
|
rs763728092 CA9279627 |
371 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763728092 CA9279628 |
371 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776955810 CA9279625 |
372 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs764818958 CA9279607 |
379 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA404622323 rs1478349805 |
380 | K>N | No |
ClinGen gnomAD |
|
|
CA9279606 rs761034469 |
381 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9279605 rs750820123 |
383 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1191275799 CA404622245 |
383 | I>V | No |
ClinGen gnomAD |
|
|
CA404622209 rs1436060469 |
384 | Q>E | No |
ClinGen TOPMed |
|
|
rs768057963 CA9279604 |
385 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1056220898 CA305968917 |
385 | M>R | No |
ClinGen TOPMed |
|
|
CA404622126 rs1211573562 |
386 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA404622115 rs1317686858 |
386 | P>L | No |
ClinGen Ensembl |
|
|
CA404622143 rs1211573562 |
386 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774544776 CA9279602 |
387 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404621983 rs1316061180 |
391 | Y>D | No |
ClinGen TOPMed |
|
|
rs1599749846 CA404621964 |
392 | E>K | No |
ClinGen Ensembl |
|
|
rs369429371 CA9279600 |
393 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375491128 CA9279598 |
395 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs775793913 CA9279599 |
395 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 397 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776429920 CA305968877 |
398 | Q>R | No |
ClinGen TOPMed |
|
|
rs1599749830 CA404621766 |
400 | P>A | No |
ClinGen Ensembl |
|
|
CA404621758 rs1438059063 |
400 | P>L | No |
ClinGen gnomAD |
|
|
rs1438059063 CA404621760 |
400 | P>R | No |
ClinGen gnomAD |
|
|
CA305968876 rs1043392918 |
401 | A>V | No |
ClinGen TOPMed |
|
|
rs1325784163 CA404621693 |
403 | A>S | No |
ClinGen gnomAD |
|
|
rs777719318 CA9279593 COSM74138 |
404 | G>S | ovary Variant assessed as Somatic; 4.656e-05 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9279591 rs766515661 |
406 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9279592 rs757854182 |
406 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA404621600 rs1452657225 |
409 | G>A | No |
ClinGen gnomAD |
|
|
rs754646787 CA9279589 CA404621610 |
409 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200951226 CA305968821 |
411 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3718137 CA9279587 rs200835595 |
412 | D>N | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1270536415 CA404621512 |
413 | Q>R | No |
ClinGen gnomAD |
|
|
CA404621488 rs1194884598 |
414 | I>T | No |
ClinGen gnomAD |
|
|
rs760949491 CA305968807 |
416 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs900452308 CA305968801 |
417 | N>K | No |
ClinGen Ensembl |
|
|
rs764715978 CA404621332 |
420 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764715978 CA9279584 |
420 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276243831 CA404621333 |
420 | P>S | No |
ClinGen gnomAD |
|
|
CA9279583 rs763056222 |
425 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1338121293 CA404621193 |
425 | P>R | No |
ClinGen TOPMed |
|
|
CA404621165 rs1448117121 |
426 | H>P | No |
ClinGen gnomAD |
|
|
CA9279580 rs773224330 |
428 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA404621040 rs1409738721 |
430 | P>H | No |
ClinGen gnomAD |
|
|
rs568640108 CA305968771 |
430 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9279579 rs776454183 |
432 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs770590958 CA9279578 |
433 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226058026 CA404620920 |
434 | Q>R | No |
ClinGen TOPMed |
|
|
rs1473016199 CA404619685 |
436 | P>S | No |
ClinGen gnomAD |
|
|
CA305966345 rs994398670 |
437 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404619654 rs1485107780 |
438 | E>K | No |
ClinGen gnomAD |
|
|
CA404619579 rs1218250200 |
441 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1218250200 CA404619575 |
441 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1314584083 CA404619561 |
442 | Y>C | No |
ClinGen gnomAD |
|
|
CA404619552 rs1389610920 |
443 | P>A | No |
ClinGen TOPMed |
|
|
CA404619533 rs1282831765 |
443 | P>L | No |
ClinGen gnomAD |
|
|
CA404619540 rs1282831765 |
443 | P>Q | No |
ClinGen gnomAD |
|
|
rs1295434252 CA404619499 |
445 | H>Y | No |
ClinGen gnomAD |
|
|
rs867882149 CA305966325 |
447 | G>C | No |
ClinGen Ensembl |
|
|
CA404619446 rs1355134157 |
448 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404619448 rs1355134157 |
448 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1298994884 CA404619430 |
449 | P>S | No |
ClinGen gnomAD |
|
|
CA305966324 rs965363552 |
450 | P>H | No |
ClinGen Ensembl |
|
|
rs1433053459 CA404619421 |
450 | P>S | No |
ClinGen gnomAD |
|
|
rs760433014 CA305966314 |
451 | H>Y | No |
ClinGen Ensembl |
|
|
CA9279561 rs759691871 |
452 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA404619371 rs776667491 |
453 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs776667491 CA9279560 |
453 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA305966298 rs1006876219 |
454 | P>H | No |
ClinGen gnomAD |
|
|
CA404619352 rs1006876219 |
454 | P>R | No |
ClinGen gnomAD |
|
|
rs1162585193 CA404619356 |
454 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1162585193 CA404619361 |
454 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404619329 rs1187889208 |
455 | W>* | No |
ClinGen gnomAD |
|
| rs770045437 | 455 | W>G | Variant assessed as Somatic; 0.001063 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770045437 | 455 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575417431 CA9279557 |
456 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305966246 rs200565748 |
457 | N>S | No |
ClinGen gnomAD |
|
|
CA305966269 rs200565748 |
457 | N>T | No |
ClinGen gnomAD |
|
|
CA404619278 rs1203433345 |
458 | S>N | No |
ClinGen TOPMed |
|
|
CA404619263 rs1215738316 |
459 | H>Y | No |
ClinGen gnomAD |
|
|
CA9279556 rs760459441 |
461 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1231919744 CA404619199 |
462 | M>T | No |
ClinGen gnomAD |
|
|
rs1275567500 CA404619204 |
462 | M>V | No |
ClinGen gnomAD |
|
|
rs1279094830 CA404619155 |
465 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1216481089 CA404619137 |
466 | Q>R | No |
ClinGen gnomAD |
|
|
CA404619127 rs1288312689 |
467 | R>C | No |
ClinGen gnomAD |
|
|
CA404619062 rs1423094891 |
471 | G>D | No |
ClinGen TOPMed |
|
|
rs936905186 CA305966235 |
471 | G>S | No |
ClinGen TOPMed |
|
|
rs748125653 CA9279553 |
474 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305966205 rs949564119 |
476 | R>H | No |
ClinGen TOPMed |
|
|
CA404618994 rs1172089598 |
476 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA305966183 rs938220078 |
478 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404618895 rs1372202366 |
481 | N>H | No |
ClinGen gnomAD |
|
|
rs1191311958 CA404618890 |
481 | N>S | No |
ClinGen gnomAD |
|
|
CA404618866 rs1404206267 |
482 | N>S | No |
ClinGen TOPMed |
|
|
CA404618840 rs1255512214 |
483 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA404618847 rs1455191934 |
483 | Q>P | No |
ClinGen gnomAD |
|
|
rs1468323304 CA404618821 |
485 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA404618775 rs11539315 |
487 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9279551 rs11539315 |
487 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748848427 CA9279550 |
487 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404618720 rs1306032801 |
490 | S>G | No |
ClinGen gnomAD |
|
|
CA9279549 rs779510586 |
490 | S>N | No |
ClinGen ExAC |
|
|
CA404618663 rs755893579 |
491 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305966151 rs962058889 |
491 | Q>R | No |
ClinGen TOPMed |
|
|
rs907859913 CA404618625 |
492 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1219954882 CA404618651 |
492 | F>L | No |
ClinGen gnomAD |
|
|
rs1301170926 CA404618581 |
494 | G>D | No |
ClinGen gnomAD |
|
|
rs1439987609 CA404618556 |
496 | W>* | No |
ClinGen gnomAD |
|
|
rs202163088 CA9279547 |
497 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305966103 CA404618467 rs983753121 |
500 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9279546 rs541750951 |
501 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9279545 rs758940358 |
503 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA404618382 rs1392652128 |
504 | P>S | No |
ClinGen gnomAD |
|
|
rs765795233 CA9279543 |
507 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9279542 rs754954539 |
508 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1479859752 CA404618258 |
508 | G>D | No |
ClinGen gnomAD |
|
|
CA404618215 rs1211791786 |
509 | Q>R | No |
ClinGen gnomAD |
|
|
CA404618179 rs1350146472 |
510 | R>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 510 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404618152 rs1170278403 |
510 | R>L | No |
ClinGen TOPMed |
|
|
CA404618142 rs1278229126 |
511 | E>K | No |
ClinGen gnomAD |
|
|
CA305966074 rs952527177 |
512 | P>S | No |
ClinGen gnomAD |
|
|
rs766574757 CA9279540 |
513 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1309056969 CA404618079 |
513 | P>S | No |
ClinGen gnomAD |
|
|
rs1423934447 CA404618012 |
515 | R>L | No |
ClinGen TOPMed |
|
|
rs1303070731 CA404617985 |
516 | M>I | No |
ClinGen gnomAD |
|
|
rs1234571438 CA404617975 |
517 | Q>K | No |
ClinGen gnomAD |
|
|
rs1416201549 CA404617902 |
518 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA305966052 rs918330027 |
519 | P>L | No |
ClinGen Ensembl |
|
|
rs1287746765 CA404617678 |
523 | R>Q | No |
ClinGen TOPMed |
|
|
CA404617690 COSM1201036 rs1436652310 |
523 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1419740084 CA404617649 |
525 | P>S | No |
ClinGen gnomAD |
|
|
CA404617588 rs1362650023 |
527 | P>L | No |
ClinGen TOPMed |
|
|
rs972616637 CA305966047 |
527 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs952038362 CA305966036 |
529 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1250168448 CA404617358 |
531 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404617318 rs761692729 |
532 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404617338 rs1188955233 |
532 | H>Y | No |
ClinGen gnomAD |
|
|
CA9279534 rs768646832 |
533 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9279535 rs774101622 |
533 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748747508 CA9279533 |
534 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9279532 rs775194594 |
536 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316154480 CA404617041 |
539 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1316154480 CA404617045 |
539 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA305965983 rs955285561 |
540 | H>P | No |
ClinGen Ensembl |
|
|
CA404616990 rs1234880668 |
540 | H>Q | No |
ClinGen gnomAD |
|
|
rs1006782850 CA305965978 |
541 | P>L | No |
ClinGen gnomAD |
|
|
CA404616939 rs1006782850 |
541 | P>R | No |
ClinGen gnomAD |
|
|
rs1353222008 CA404616974 |
541 | P>S | No |
ClinGen gnomAD |
|
|
rs767739698 CA9279530 |
543 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781021099 CA9279529 |
544 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA404616732 rs868606588 |
546 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404616709 rs1452210098 |
546 | R>H | No |
ClinGen gnomAD |
|
|
CA305965966 rs868606588 |
546 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9279528 rs772514217 COSM1494215 |
550 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA404616360 rs1217871464 |
554 | D>G | No |
ClinGen gnomAD |
|
|
CA404616297 rs1187424236 |
555 | D>G | No |
ClinGen gnomAD |
|
|
CA404616211 rs1447662052 |
557 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs552591109 CA305965945 |
557 | P>S | No |
ClinGen 1000Genomes |
|
|
rs1409686602 CA404616173 |
558 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 559 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404616118 rs1389959065 |
559 | R>P | No |
ClinGen Ensembl |
|
| TCGA novel | 563 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404615975 rs1320743123 |
564 | R>W | No |
ClinGen TOPMed |
|
|
CA404615931 rs779221688 |
565 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779221688 CA9279526 |
565 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305965918 rs891486868 |
565 | P>S | No |
ClinGen TOPMed |
|
|
CA404615869 rs1305712909 |
566 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1227612034 CA404615855 |
567 | Y>N | No |
ClinGen gnomAD |
|
|
rs1327711876 CA404615730 |
569 | H>R | No |
ClinGen gnomAD |
|
|
CA404615737 rs1599748330 |
569 | H>Y | No |
ClinGen Ensembl |
|
|
CA404615706 rs1461011296 |
570 | R>C | No |
ClinGen TOPMed |
|
|
CA9279523 rs780148993 |
570 | R>H | No |
ClinGen ExAC |
|
|
rs1384961050 CA404615473 |
574 | P>L | No |
ClinGen gnomAD |
|
|
rs756219299 CA9279522 |
574 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1473105404 CA404615429 |
575 | Q>H | No |
ClinGen TOPMed |
|
|
rs1392657219 CA404615362 |
577 | D>N | No |
ClinGen gnomAD |
|
|
rs1304820984 CA404614044 |
584 | P>L | No |
ClinGen gnomAD |
|
|
rs1373521738 COSM1201034 CA404614066 |
584 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 585 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404613997 rs1599747304 |
586 | H>P | No |
ClinGen Ensembl |
|
|
CA404613970 rs1443704044 |
587 | H>Y | No |
ClinGen gnomAD |
|
|
rs1599747301 CA404613936 |
588 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 590 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9279513 rs775106668 |
592 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs371011161 CA305963701 |
592 | R>H | No |
ClinGen ESP gnomAD |
|
|
rs371011161 CA404613778 |
592 | R>L | No |
ClinGen ESP gnomAD |
|
|
rs1166356907 CA404613771 |
593 | M>L | No |
ClinGen gnomAD |
|
|
CA9279512 rs769385871 |
594 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs900580936 CA305963699 |
595 | H>R | No |
ClinGen Ensembl |
|
|
rs368216975 CA404613628 |
596 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368216975 CA9279511 |
596 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305963691 rs773829616 |
597 | G>S | No |
ClinGen Ensembl |
|
|
CA9279510 rs752665285 |
598 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770620355 CA9279509 |
600 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 601 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779384365 CA9279507 |
602 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs947538736 CA305963624 |
604 | W>R | No |
ClinGen Ensembl |
|
|
CA305963611 rs770612415 |
605 | A>T | No |
ClinGen Ensembl |
|
|
rs1194811356 CA404613368 |
606 | G>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 608 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs913516264 CA305963610 |
609 | H>R | No |
ClinGen Ensembl |
|
|
CA404613285 rs1337967106 |
609 | H>Y | No |
ClinGen TOPMed |
|
|
CA9279504 rs780562940 |
613 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1274772813 CA404613186 |
614 | P>L | No |
ClinGen gnomAD |
|
|
rs376237090 CA9279503 |
614 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9279502 rs750510620 |
615 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750510620 CA404613169 |
615 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404613180 rs1346276795 |
615 | P>T | No |
ClinGen TOPMed |
|
|
CA9279499 rs371448176 |
616 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371448176 CA9279501 |
616 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371448176 CA9279500 |
616 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404613124 rs938894147 |
617 | H>N | No |
ClinGen TOPMed gnomAD |
|
| rs757443115 | 617 | H>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404613122 rs1568505463 |
617 | H>R | No |
ClinGen Ensembl |
|
|
CA305963550 rs938894147 |
617 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA404613017 rs1393219782 |
620 | N>S | No |
ClinGen TOPMed |
|
|
rs1394470334 CA404612990 |
621 | G>R | No |
ClinGen gnomAD |
|
|
rs762517535 CA305963521 |
622 | Q>K | No |
ClinGen Ensembl |
|
|
rs765280437 CA9279494 |
626 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9279493 rs759050763 |
627 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 628 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776347542 CA9279492 |
628 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199591449 CA9279491 |
631 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1259141247 CA404612697 |
631 | P>S | No |
ClinGen gnomAD |
|
|
CA404612648 rs1278552764 |
632 | P>S | No |
ClinGen gnomAD |
|
|
rs1353324989 CA404612565 |
634 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772769177 CA9279489 |
634 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1278095737 CA404612527 |
635 | N>S | No |
ClinGen gnomAD |
|
|
rs1301921321 CA404612509 |
636 | H>D | No |
ClinGen gnomAD |
|
|
rs769014572 CA9279488 |
636 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs775905252 CA9279486 |
637 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs916314293 CA305963477 |
639 | P>S | No |
ClinGen Ensembl |
|
|
rs534828961 CA9279483 |
644 | N>S | Variant assessed as Somatic; 0.0004192 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9279482 rs757394350 |
645 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777883442 CA9279480 |
649 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA404612132 rs1599747164 |
650 | L>H | No |
ClinGen Ensembl |
|
|
rs1253351583 CA404612061 |
654 | L>P | No |
ClinGen TOPMed |
|
|
CA404612011 rs1599747159 |
655 | M>I | No |
ClinGen Ensembl |
|
|
CA404611921 rs1599747156 |
657 | P>S | No |
ClinGen Ensembl |
|
|
rs983791488 CA305963422 |
659 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA404610659 rs1441494861 |
663 | D>G | No |
ClinGen gnomAD |
|
|
CA404610597 rs1323702576 |
667 | K>Q | No |
ClinGen gnomAD |
|
|
rs1279805684 CA404610568 |
668 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs755582064 CA9279455 |
670 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA9279454 rs749965563 |
672 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1172067997 CA404610466 |
673 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 675 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767182551 CA9279453 |
676 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA305961887 rs775804888 |
678 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9279451 rs775804888 |
678 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404610396 rs1599746164 |
679 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 680 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404610347 rs1263604872 |
681 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404610328 rs1206807279 |
682 | P>S | No |
ClinGen gnomAD |
|
|
CA404610286 rs1305867648 |
683 | S>N | No |
ClinGen gnomAD |
|
|
CA404610270 rs1235086840 |
684 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA404609951 rs1487078846 |
693 | F>L | No |
ClinGen TOPMed |
|
|
rs547678812 CA9279445 |
694 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs547678812 CA404609897 |
694 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868510978 CA305961843 |
696 | P>L | No |
ClinGen gnomAD |
|
|
rs1164769454 CA404609757 |
700 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1338213264 CA404609264 |
708 | W>* | No |
ClinGen gnomAD |
|
|
CA404609038 rs1382267094 |
716 | F>L | No |
ClinGen gnomAD |
|
|
CA305961247 rs543141111 |
722 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1248922427 CA404608867 |
724 | R>W | No |
ClinGen gnomAD |
|
|
rs1034029214 CA305961241 |
725 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751076830 CA9279415 |
725 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305961240 rs1041442685 |
726 | R>K | No |
ClinGen gnomAD |
|
|
rs1001177521 CA305961236 |
727 | K>Q | No |
ClinGen TOPMed |
|
| rs1366906373 | 730 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599745599 CA404608779 |
731 | K>R | No |
ClinGen Ensembl |
|
|
rs758045225 CA9279413 |
732 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404608746 rs1263783139 |
734 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 734 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9279395 rs182864410 |
734 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9279394 rs747706325 |
735 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778641313 CA9279393 |
737 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759063404 CA9279389 |
740 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759063404 CA9279388 |
740 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768121192 CA9279390 |
740 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305959631 rs905493025 |
746 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs776056169 COSM992481 CA404607224 |
748 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9279384 rs199601560 |
748 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9279385 rs776056169 |
748 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376813566 CA404607210 |
749 | S>A | No |
ClinGen gnomAD |
|
|
rs971492479 CA305959604 |
749 | S>F | No |
ClinGen TOPMed |
|
|
CA404607179 rs1182105494 |
750 | S>Y | No |
ClinGen gnomAD |
|
|
CA9279383 rs759325137 |
752 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9279382 rs541504061 |
752 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404607098 rs1270866330 |
754 | N>S | No |
ClinGen TOPMed |
|
|
rs1023959027 CA305959583 |
755 | S>T | No |
ClinGen TOPMed |
|
|
rs746988674 CA9279380 |
762 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs918432112 CA305959569 |
763 | S>L | No |
ClinGen TOPMed |
|
|
rs1439742539 CA404606771 |
766 | R>G | No |
ClinGen Ensembl |
|
|
CA9279377 rs747697426 |
770 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs373643502 CA9279376 |
770 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373643502 CA404606634 |
770 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747697426 CA404606648 |
770 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA9279374 rs746209334 |
773 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9279373 rs201289066 |
774 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757723616 CA9279372 |
774 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568503909 CA404606530 |
775 | S>T | No |
ClinGen Ensembl |
|
|
CA404606480 rs1360442848 |
776 | Y>C | No |
ClinGen TOPMed |
|
|
CA9279370 rs764678832 |
778 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9279369 rs369466742 |
778 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9279348 rs372500028 |
784 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9279349 rs372500028 |
784 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779091226 CA9279346 |
786 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9279345 rs755082568 |
786 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1319692686 CA404606030 |
787 | S>T | No |
ClinGen gnomAD |
|
|
CA9279343 rs200665277 |
788 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404605991 rs760459314 |
788 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760459314 CA9279342 |
788 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305959272 rs905545882 |
789 | S>F | No |
ClinGen Ensembl |
|
|
rs1404243205 CA404605985 |
789 | S>P | No |
ClinGen gnomAD |
|
|
CA404605924 rs1419557384 |
790 | S>P | No |
ClinGen gnomAD |
|
|
CA404605906 rs1169807701 |
791 | R>G | No |
ClinGen gnomAD |
|
|
CA305959270 rs779298060 |
792 | S>G | No |
ClinGen Ensembl |
|
|
rs750289385 CA404605850 |
792 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9279341 rs750289385 |
792 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575182489 CA9279339 |
793 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9279340 rs575182489 |
793 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202164310 CA9279338 |
793 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762562358 CA9279336 |
795 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs541441224 CA9279337 |
795 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs769641643 CA9279334 |
797 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA9279333 rs747324706 |
798 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 798 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404605692 rs1296762298 |
799 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9279330 rs748650371 |
801 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779311631 CA9279328 |
803 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 804 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404605570 rs1309360316 |
807 | P>S | No |
ClinGen gnomAD |
|
|
rs756376407 CA9279323 |
809 | R>K | No |
ClinGen ExAC |
|
|
rs1434150626 CA404605512 |
810 | R>S | No |
ClinGen gnomAD |
|
|
rs767301108 CA9279321 |
811 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs751451818 CA9279320 |
811 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9279319 rs751451818 |
811 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764135563 CA404605494 |
812 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305959130 rs890918682 |
812 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs764135563 CA9279318 |
812 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 813 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9279315 rs367830689 |
814 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775200717 CA9279316 |
814 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404605436 rs1313761926 |
815 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 816 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218394775 CA404605424 |
816 | R>S | No |
ClinGen gnomAD |
|
|
rs1373689100 CA404605418 |
817 | S>R | No |
ClinGen gnomAD |
|
|
CA305959093 rs879213640 |
817 | S>R | No |
ClinGen Ensembl |
|
|
CA9279314 rs759274929 |
817 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs968217758 CA305959080 |
818 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs748475670 CA9279311 |
819 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748475670 CA9279310 |
819 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305959053 rs932533234 |
819 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs373722617 CA9279309 |
820 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9279307 rs749346192 |
821 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188412547 CA404605143 |
822 | S>F | No |
ClinGen gnomAD |
|
|
CA9279288 rs769120338 |
822 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404605137 rs1425615531 |
823 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1351506265 CA404605055 |
827 | G>A | No |
ClinGen TOPMed |
|
|
rs1404653392 CA404605031 |
828 | S>F | No |
ClinGen TOPMed |
|
|
rs1249713068 CA404605029 |
829 | N>H | No |
ClinGen gnomAD |
|
|
CA9279285 COSM992478 rs371270066 |
830 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1206559312 CA404604991 |
830 | S>T | No |
ClinGen gnomAD |
|
|
CA9279284 rs745937321 |
831 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404604848 rs1568503207 |
835 | P>L | No |
ClinGen Ensembl |
|
|
rs1395904671 CA404604747 |
840 | G>R | No |
ClinGen gnomAD |
|
|
rs1568503198 CA404604714 |
841 | E>G | No |
ClinGen Ensembl |
|
|
rs758300143 CA9279279 |
842 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs752633904 CA9279278 |
843 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA404604288 rs1235881782 |
856 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs920717416 CA305958002 |
857 | S>L | No |
ClinGen TOPMed |
|
|
CA9279235 rs745446988 |
861 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs756956431 CA9279233 |
862 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9279231 rs550333603 |
869 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404604033 rs1436016480 |
870 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1473300477 CA404604018 |
872 | K>E | No |
ClinGen gnomAD |
|
|
CA404603991 rs1568502936 |
874 | G>R | No |
ClinGen Ensembl |
|
|
rs1368842478 CA404603977 |
875 | D>Y | No |
ClinGen Ensembl |
|
|
CA9279227 rs201274229 |
876 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404603958 rs1568502924 |
877 | R>Q | No |
ClinGen Ensembl |
|
|
rs374868976 COSM4131357 CA9279226 |
877 | R>W | thyroid [Cosmic] | No |
ClinGen cosmic curated ESP ExAC |
|
CA404603941 rs1276249541 |
878 | D>G | No |
ClinGen TOPMed |
|
|
rs767815823 CA9279225 |
878 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs967776134 CA305957890 |
879 | K>N | No |
ClinGen Ensembl |
|
|
CA9279221 rs749109211 |
886 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9279219 rs769777301 |
888 | V>M | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs536006274 CA305957821 |
894 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC gnomAD NCI-TCGA |
|
rs780722415 CA9279217 |
894 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1412548213 CA404603624 |
896 | N>T | No |
ClinGen gnomAD |
|
|
rs746597113 CA404603353 |
906 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370857958 CA9279214 |
908 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA305957788 rs867218215 |
912 | R>G | No |
ClinGen Ensembl |
|
|
rs750997201 CA9279209 |
915 | C>S | No |
ClinGen ExAC |
|
|
rs1441074114 CA404603186 |
915 | C>Y | No |
ClinGen gnomAD |
No associated diseases with Q8IWX8
1 regional properties for Q8IWX8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RAI1-like | 224 - 295 | IPR013961 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| sarcoplasmic reticulum membrane | The lipid bilayer surrounding the sarcoplasmic reticulum. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| positive regulation of calcineurin-NFAT signaling cascade | Any process that activates or increases the frequency, rate or extent of signaling via the calcineurin-NFAT signaling cascade. |
| release of sequestered calcium ion into cytosol | The process in which calcium ions sequestered in the endoplasmic reticulum, Golgi apparatus or mitochondria are released into the cytosolic compartment. |
| RNA processing | Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8CGZ0 | Cherp | Calcium homeostasis endoplasmic reticulum protein | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEMPLPPDDQ | ELRNVIDKLA | QFVARNGPEF | EKMTMEKQKD | NPKFSFLFGG | EFYSYYKCKL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ALEQQQLICK | QQTPELEPAA | TMPPLPQPPL | APAAPIPPAQ | GAPSMDELIQ | QSQWNLQQQE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QHLLALRQEQ | VTAAVAHAVE | QQMQKLLEET | QLDMNEFDNL | LQPIIDTCTK | DAISAGKNWM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FSNAKSPPHC | ELMAGHLRNR | ITADGAHFEL | RLHLIYLIND | VLHHCQRKQA | RELLAALQKV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VVPIYCTSFL | AVEEDKQQKI | ARLLQLWEKN | GYFDDSIIQQ | LQSPALGLGQ | YQATLINEYS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SVVQPVQLAF | QQQIQTLKTQ | HEEFVTSLAQ | QQQQQQQQQQ | QLQMPQMEAE | VKATPPPPAP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PPAPAPAPAI | PPTTQPDDSK | PPIQMPGSSE | YEAPGGVQDP | AAAGPRGPGP | HDQIPPNKPP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| WFDQPHPVAP | WGQQQPPEQP | PYPHHQGGPP | HCPPWNNSHE | GMWGEQRGDP | GWNGQRDAPW |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NNQPDAAWNS | QFEGPWNSQH | EQPPWGGGQR | EPPFRMQRPP | HFRGPFPPHQ | QHPQFNQPPH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PHNFNRFPPR | FMQDDFPPRH | PFERPPYPHR | FDYPQGDFPA | EMGPPHHHPG | HRMPHPGINE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HPPWAGPQHP | DFGPPPHGFN | GQPPHMRRQG | PPHINHDDPS | LVPNVPYFDL | PAGLMAPLVK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LEDHEYKPLD | PKDIRLPPPM | PPSERLLAAV | EAFYSPPSHD | RPRNSEGWEQ | NGLYEFFRAK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| MRARRRKGQE | KRNSGPSRSR | SRSKSRGRSS | SRSNSRSSKS | SGSYSRSRSR | SCSRSYSRSR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SRSRSRSRSS | RSRSRSQSRS | RSKSYSPGRR | RRSRSRSPTP | PSSAGLGSNS | APPIPDSRLG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EENKGHQMLV | KMGWSGSGGL | GAKEQGIQDP | IKGGDVRDKW | DQYKGVGVAL | DDPYENYRRN |
| 910 | |||||
| KSYSFIARMK | ARDECK |