Q96L12
PR
Gene name |
CALR3 (CRT2) |
Protein name |
Calreticulin-3 |
Names |
Calreticulin-2, Calsperin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:125972 |
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 Q96L12
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96L12-F1 | Predicted | AlphaFoldDB |
353 variants for Q96L12
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001247862 rs776813962 |
1 | M>L | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9278549 RCV000803526 rs747264355 |
6 | V>I | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001342403 rs201886703 CA404617840 CA9278546 |
7 | Q>H | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs3810201 CA9278543 RCV000648821 |
10 | A>T | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001351562 rs755784741 CA9278541 |
11 | I>V | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA404617634 CA305997394 rs1022237662 RCV001229166 |
13 | M>I | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
CA10583797 rs878855223 RCV000228780 |
13 | M>T | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001239014 rs2093408003 |
13 | M>V | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001850178 rs368506422 CA346239 RCV000157135 |
23 | F>I | Hypertrophic cardiomyopathy 19 Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs149634686 CA9278506 RCV001706279 RCV001795373 RCV000226001 |
42 | N>S | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs745435624 CA9278505 RCV001204638 |
43 | D>N | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060502978 CA16616029 RCV000467702 |
61 | E>K | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001078828 CA237064 RCV000171882 rs182376945 |
72 | G>D | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9278466 RCV000768499 rs199561391 RCV001855905 |
73 | R>G | Hypertrophic cardiomyopathy 19 Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000852753 rs746369368 CA404614055 |
80 | R>P | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA129527 RCV000172523 rs142951029 RCV000157136 RCV000023894 VAR_065476 RCV000857965 |
82 | K>R | Arrhythmogenic right ventricular cardiomyopathy Hypertrophic cardiomyopathy 19 Hypertrophic cardiomyopathy found in a patient with hypertrophic cardiomyopathy; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9278443 RCV001204008 rs139061471 |
108 | G>A | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001295959 rs1209076661 CA404613164 |
117 | I>V | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs946376334 RCV000792506 CA305992007 |
119 | Q>R | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000816001 CA404613086 rs1599720904 |
120 | K>N | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222688 rs2093395920 |
123 | N>T | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001296715 rs752960232 CA9278437 |
126 | S>L | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 19 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001203920 rs2093387443 |
135 | D>G | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143932873 CA9278411 RCV001528265 RCV000460922 |
135 | D>N | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1297452902 CA404610700 RCV001296819 |
151 | K>R | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2093387315 RCV001315362 |
159 | K>T | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1172919657 RCV001700172 RCV000601348 CA404610551 |
162 | R>G | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA9278403 rs778791995 RCV000807971 |
163 | C>Y | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1248561462 RCV000694911 CA404610182 |
174 | L>P | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000611727 rs747656642 RCV001700241 |
189 | Q>missing | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001348522 rs2093384836 |
200 | W>C | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs111870908 RCV001065063 CA9278340 |
207 | K>E | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746871999 CA9278339 RCV000792224 |
209 | T>M | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 19 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000816932 rs550089146 CA9278333 |
214 | S>L | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001228534 rs550089146 CA9278334 |
214 | S>W | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555775874 RCV000538854 CA404608483 |
231 | H>D | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2093383229 RCV001281573 |
233 | L>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA404608390 rs1329331101 RCV000698639 |
237 | T>S | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000815981 CA9278308 rs146669521 |
242 | D>N | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001229441 rs753917463 CA9278306 |
245 | G>S | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs961599926 CA305981598 RCV000700645 |
247 | L>Q | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA915952924 rs1599717620 RCV000852479 |
258 | K>AR | Restrictive cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9278271 RCV000474194 rs200056222 |
263 | D>H | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000588640 CA199993 rs12459238 RCV000172742 RCV000456929 VAR_027946 RCV000620226 |
274 | V>I | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs543953490 CA9278261 COSM329218 RCV000539617 |
278 | R>C | Hypertrophic cardiomyopathy 19 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000619715 CA404607931 rs1247489343 RCV001241673 |
278 | R>H | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 19 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001703179 rs75099211 RCV001700129 RCV000618962 CA9278259 RCV000467356 |
283 | T>I | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000172741 rs10404156 RCV000852751 RCV000621757 VAR_048589 CA199990 COSM2150999 RCV000429817 RCV000461036 |
284 | D>N | Cardiomyopathy Hypertrophic cardiomyopathy 19 central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA404607610 rs1599717443 RCV000806881 |
306 | Q>K | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA404606807 rs1233176565 RCV001307007 |
314 | D>V | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000556466 rs199535524 CA9278218 |
335 | E>K | Hypertrophic cardiomyopathy 19 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000817989 CA9278182 rs150430942 |
356 | R>C | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001700127 RCV000618856 RCV000466260 RCV000588378 RCV000852750 rs140290452 CA9278180 |
356 | R>L | Hypertrophic cardiomyopathy 19 Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9278178 RCV000476858 rs777429499 |
357 | E>K | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000801511 CA9278172 rs768015132 |
365 | S>L | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy 19 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000459812 rs140440387 CA9278167 |
372 | E>K | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs140440387 RCV000648822 CA9278166 RCV003162961 |
372 | E>Q | Hypertrophic cardiomyopathy 19 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA404604871 rs1555775532 RCV000549366 |
374 | Y>D | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000695308 rs1426645883 |
377 | Q>missing | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696300 CA9278164 rs372514243 |
377 | Q>E | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001351325 rs368434498 CA9278160 |
383 | E>K | Hypertrophic cardiomyopathy 19 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1299794483 CA404618004 |
2 | A>G | No |
ClinGen gnomAD |
|
|
rs948846114 CA404618001 |
3 | R>G | No |
ClinGen gnomAD |
|
|
rs1344171366 CA404617992 |
3 | R>Q | No |
ClinGen gnomAD |
|
|
rs948846114 CA305997538 |
3 | R>W | No |
ClinGen gnomAD |
|
|
CA404617897 rs1414994481 |
6 | V>A | No |
ClinGen gnomAD |
|
|
CA404617863 rs1599724220 |
7 | Q>* | No |
ClinGen Ensembl |
|
|
rs538611499 CA9278547 |
7 | Q>P | No |
ClinGen 1000Genomes ExAC |
|
|
CA9278545 rs11544148 VAR_027944 |
8 | L>F | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs754504178 CA9278544 |
9 | W>L | No |
ClinGen ExAC |
|
|
CA9278542 rs766005088 |
10 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs966696487 CA305997427 |
11 | I>M | No |
ClinGen TOPMed |
|
|
rs764357332 CA9278540 |
12 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764357332 CA9278539 |
12 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404617706 rs1271345238 |
12 | C>Y | No |
ClinGen gnomAD |
|
|
rs1488813763 CA404617618 |
14 | L>R | No |
ClinGen TOPMed |
|
|
CA404617553 rs1599724174 |
16 | V>G | No |
ClinGen Ensembl |
|
|
CA9278538 rs763443484 |
19 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA404617417 rs1293805638 |
20 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9278534 rs776652603 |
21 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs964981557 CA305997341 |
22 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA404617307 rs1451906183 |
23 | F>L | No |
ClinGen TOPMed |
|
|
rs1017470380 CA305997316 |
25 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 25 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9278533 rs747141034 |
28 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA404617001 rs1261432653 |
30 | G>* | No |
ClinGen gnomAD |
|
|
CA404617010 rs1261432653 |
30 | G>R | No |
ClinGen gnomAD |
|
| rs1463413854 | 31 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305997311 rs1009154056 |
31 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA404616277 rs1396322901 |
33 | W>G | No |
ClinGen gnomAD |
|
|
CA404616190 rs1313904577 |
36 | R>G | No |
ClinGen gnomAD |
|
|
rs749228587 CA9278508 |
37 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA404616127 rs1173294411 |
37 | W>* | No |
ClinGen gnomAD |
|
|
CA9278507 rs780211279 |
38 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs945443284 CA305997076 |
40 | S>F | No |
ClinGen TOPMed |
|
|
CA404615971 rs1365672007 |
41 | T>I | No |
ClinGen gnomAD |
|
|
CA404615890 rs1373738523 |
43 | D>G | No |
ClinGen TOPMed |
|
|
CA404615814 rs1212903941 |
45 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9278504 rs780590548 |
46 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940231786 CA305997040 |
47 | G>E | No |
ClinGen Ensembl |
|
|
rs1279334739 CA404615766 |
47 | G>R | No |
ClinGen gnomAD |
|
|
rs556663033 CA9278503 |
48 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs908717606 CA305996976 |
50 | R>G | No |
ClinGen gnomAD |
|
|
CA9278502 rs751176255 |
51 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1258436994 CA404615584 |
52 | S>W | No |
ClinGen gnomAD |
|
|
CA9278499 rs147300344 |
54 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9278498 rs766911825 |
55 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404615481 rs1354034080 |
55 | K>R | No |
ClinGen gnomAD |
|
|
rs201808529 CA9278497 |
56 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9278495 rs138350128 |
57 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9278496 rs368523051 |
57 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1156914746 CA404615382 |
58 | G>V | No |
ClinGen gnomAD |
|
|
CA404615370 rs1453203521 |
59 | H>D | No |
ClinGen gnomAD |
|
|
CA404615341 rs1255087190 |
60 | K>Q | No |
ClinGen TOPMed |
|
|
rs201304731 CA237067 RCV000171883 |
63 | D>E | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1568488921 CA404615235 |
63 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 65 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305992393 rs764572647 |
65 | G>D | No |
ClinGen Ensembl |
|
|
CA9278471 rs775385558 |
67 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs150907410 CA9278470 |
67 | Q>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA404614203 rs1268785587 |
69 | T>S | No |
ClinGen gnomAD |
|
|
rs1599721004 CA404614199 |
69 | T>S | No |
ClinGen Ensembl |
|
|
rs369859530 CA9278469 |
71 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199561391 CA9278467 |
73 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9278465 COSM438831 rs372657559 |
73 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9278463 rs780394746 |
75 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
COSM992464 CA9278461 rs756445681 |
80 | R>C | endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9278460 rs746369368 |
80 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA404614018 rs142951029 |
82 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9278458 rs751645170 |
83 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs764305082 CA9278457 |
83 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404613932 rs1253922686 |
86 | N>Y | No |
ClinGen TOPMed |
|
|
rs200449193 CA9278455 |
90 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1490356282 CA404613783 |
92 | V>D | No |
ClinGen gnomAD |
|
|
rs776598394 CA9278452 |
92 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA404613692 rs1232339957 |
94 | Q>H | No |
ClinGen gnomAD |
|
|
rs898889125 CA305992192 |
95 | Y>* | No |
ClinGen Ensembl |
|
|
CA404613664 rs1370414096 |
96 | T>P | No |
ClinGen gnomAD |
|
|
rs766276146 CA9278450 |
100 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9278448 rs772666036 |
103 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA404613498 rs1290615448 |
103 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760627206 CA9278449 |
103 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs771571508 CA9278447 |
104 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA305992140 rs1036223811 |
105 | C>G | No |
ClinGen Ensembl |
|
|
rs747738664 CA404613448 |
105 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs747738664 CA9278446 |
105 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9278444 rs770166604 |
107 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781640024 CA9278442 |
109 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305992088 rs781640024 |
109 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404613296 rs1471394443 |
111 | K>E | No |
ClinGen TOPMed |
|
|
CA9278441 rs757803093 |
112 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1282894270 CA404613212 |
114 | P>H | No |
ClinGen gnomAD |
|
|
CA404613163 rs1209076661 |
117 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA305991999 rs890409463 |
120 | K>R | No |
ClinGen TOPMed |
|
|
rs777941952 CA9278439 |
121 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs758610313 CA9278438 |
123 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 129 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9278434 rs753527738 |
130 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404612815 rs1232176242 |
131 | M>K | No |
ClinGen TOPMed |
|
|
rs766228047 CA9278433 |
133 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs1462437134 CA404610902 |
133 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA404610875 rs1420584636 |
134 | P>L | No |
ClinGen gnomAD |
|
|
rs1046834597 CA305984081 |
136 | I>M | No |
ClinGen TOPMed |
|
|
CA305984084 rs903597980 |
136 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1420658492 CA404610854 |
136 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404610785 rs1214349143 |
140 | D>E | No |
ClinGen gnomAD |
|
|
CA404610792 rs762455628 |
140 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9278410 rs762455628 |
140 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9278409 rs775271709 |
141 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1271240341 CA404610761 |
144 | V>F | No |
ClinGen gnomAD |
|
|
rs1392898485 CA404610744 |
146 | V>D | No |
ClinGen TOPMed |
|
|
rs1392898485 CA404610742 |
146 | V>G | No |
ClinGen TOPMed |
|
|
CA305984054 rs931054694 |
149 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404610711 rs148241645 |
150 | F>L | No |
ClinGen ESP gnomAD |
|
|
rs761162376 CA9278407 |
152 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404610679 rs1360767331 |
153 | K>E | No |
ClinGen gnomAD |
|
|
rs772657021 CA9278406 |
155 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1442412253 CA404610641 |
156 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404610614 rs867026277 |
158 | K>E | No |
ClinGen gnomAD |
|
|
CA305984013 rs867026277 |
158 | K>Q | No |
ClinGen gnomAD |
|
|
CA404610550 rs1172919657 |
162 | R>W | No |
ClinGen gnomAD |
|
|
CA404610534 rs778791995 |
163 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913700302 CA305984001 |
163 | C>S | No |
ClinGen Ensembl |
|
|
rs1170351089 CA404610370 |
165 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs780912191 CA9278360 |
165 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780912191 CA404610382 |
165 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9278358 rs746917889 |
167 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254928104 CA404610335 |
167 | G>S | No |
ClinGen gnomAD |
|
|
rs746917889 CA9278359 |
167 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404610305 rs1309847467 |
168 | F>I | No |
ClinGen gnomAD |
|
|
rs376733366 CA9278356 |
170 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376733366 CA9278357 |
170 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1313798370 CA404610236 |
171 | L>P | No |
ClinGen gnomAD |
|
|
CA9278354 rs552364605 |
172 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374187284 CA9278353 |
173 | T>A | No |
ClinGen ESP ExAC |
|
|
CA9278352 rs143671909 |
174 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1035181108 CA305982667 |
182 | Y>C | No |
ClinGen gnomAD |
|
|
rs1599718260 CA404610000 |
183 | D>V | No |
ClinGen Ensembl |
|
|
CA404609990 rs1365581053 |
184 | V>M | No |
ClinGen gnomAD |
|
|
rs1599718255 CA404609945 |
186 | I>T | No |
ClinGen Ensembl |
|
|
CA9278346 rs764707663 |
194 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1258428984 CA404609714 |
196 | I>T | No |
ClinGen gnomAD |
|
|
rs1246411297 CA404609733 |
196 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM992461 CA305982633 rs1034788641 |
197 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1294312560 CA404609641 |
199 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1294312560 CA404609635 |
199 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 200 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775484097 CA9278344 |
201 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1599718220 CA404609543 |
201 | N>S | No |
ClinGen Ensembl |
|
|
CA9278342 rs150376706 |
203 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150376706 CA305982606 |
203 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404609468 rs1568485775 |
206 | K>E | No |
ClinGen Ensembl |
|
|
rs1244808121 CA404609465 |
206 | K>R | No |
ClinGen gnomAD |
|
|
CA404609430 rs1350003595 |
208 | E>A | No |
ClinGen TOPMed |
|
|
CA305982588 rs746871999 |
209 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3764705 CA9278337 rs772004043 |
211 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA404609405 rs1366925357 |
211 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 213 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9278331 rs529644089 |
216 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1207493969 CA404609297 |
217 | W>* | No |
ClinGen gnomAD |
|
|
CA9278328 rs763397517 COSM181825 |
220 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 222 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9278327 rs368652672 |
223 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9278326 rs765297065 |
225 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA404609065 rs1466430342 |
226 | Q>E | No |
ClinGen TOPMed |
|
|
CA9278325 rs776696174 |
226 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 226 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227929044 CA404608554 |
227 | D>E | No |
ClinGen gnomAD |
|
|
CA404608514 rs1371905502 |
229 | E>Q | No |
ClinGen gnomAD |
|
|
rs867966666 CA305981621 |
234 | D>G | No |
ClinGen Ensembl |
|
|
rs1329331101 CA404608388 |
237 | T>I | No |
ClinGen gnomAD |
|
|
CA9278310 rs753171373 |
241 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146669521 CA404608326 |
242 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1167634332 CA404608304 |
243 | W>* | No |
ClinGen gnomAD |
|
|
CA404608285 rs201198066 |
244 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 246 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9278304 rs10411092 |
248 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs10411092 CA305981590 VAR_027945 |
248 | D>G | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
rs766372296 CA9278305 |
248 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267605330 CA305981586 |
249 | G>R | No |
ClinGen Ensembl |
|
|
CA404608223 rs1246683291 |
249 | G>V | No |
ClinGen gnomAD |
|
|
rs1183143020 CA404608211 |
251 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9278303 rs773363847 |
252 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404608197 rs1272928227 |
253 | A>P | No |
ClinGen gnomAD |
|
|
COSM1240962 rs771984164 CA9278302 |
253 | A>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs761736548 CA9278301 |
254 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891866967 CA305981557 |
254 | P>S | No |
ClinGen gnomAD |
|
|
CA404608177 rs1183484360 |
256 | L>F | No |
ClinGen TOPMed |
|
|
rs774405654 CA9278300 |
257 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA305981542 rs1003038871 |
260 | P>L | No |
ClinGen TOPMed |
|
|
CA404608144 rs1376856650 |
261 | Y>S | No |
ClinGen gnomAD |
|
|
CA305981494 rs267605329 |
262 | Q>* | No |
ClinGen Ensembl |
|
|
rs769250010 CA9278296 |
262 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs755353074 CA9278269 |
263 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs779188602 CA9278270 |
263 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780461586 CA9278267 |
264 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA9278268 rs780461586 |
264 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9278266 rs756195821 |
264 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 266 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750420703 CA9278265 |
267 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750420703 CA404608083 |
267 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387247680 CA404608085 |
267 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9278264 rs767734348 |
268 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1306282315 CA404608031 |
271 | H>R | No |
ClinGen TOPMed |
|
|
CA305981138 rs12459238 |
274 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA305981118 rs183119380 |
275 | W>C | No |
ClinGen 1000Genomes |
|
|
CA404607944 rs1190733550 |
277 | H>L | No |
ClinGen gnomAD |
|
| TCGA novel | 277 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247489343 CA404607935 |
278 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1490850481 CA404607925 |
279 | K>* | No |
ClinGen gnomAD |
|
|
rs752661774 CA9278260 |
280 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1307826633 CA404607836 |
285 | Y>C | No |
ClinGen gnomAD |
|
|
CA404607813 rs772912504 |
287 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA9278255 rs772912504 COSM3764704 |
287 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9278256 rs760304266 |
287 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs201922129 CA305981019 |
288 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201922129 CA9278253 |
288 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404607796 rs1370293522 |
289 | Y>H | No |
ClinGen gnomAD |
|
|
CA404607780 rs1392687037 |
290 | D>V | No |
ClinGen Ensembl |
|
|
CA9278252 rs770159581 |
292 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs753958854 CA305981005 |
293 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 294 | F>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457763567 CA404607744 |
294 | F>I | No |
ClinGen gnomAD |
|
|
CA9278251 rs746379101 |
295 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1568485360 CA404607716 |
296 | N>D | No |
ClinGen Ensembl |
|
|
rs374467745 CA305980985 |
301 | G>R | No |
ClinGen Ensembl |
|
|
CA9278249 rs757479953 |
303 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 305 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404607604 rs1339366773 |
306 | Q>R | No |
ClinGen gnomAD |
|
|
CA9278230 rs369518093 |
308 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1368728991 CA404606939 |
309 | S>T | No |
ClinGen TOPMed |
|
|
CA305979457 rs753445939 |
310 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 314 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771113248 CA9278229 |
314 | D>Y | No |
ClinGen ExAC |
|
|
rs985096797 CA305979439 |
321 | D>G | No |
ClinGen TOPMed |
|
|
CA9278228 rs143334090 |
321 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs758485228 CA9278226 |
323 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA404606604 rs1168371634 |
323 | E>K | No |
ClinGen gnomAD |
|
|
CA9278225 rs9305079 |
324 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404606559 rs1350228189 |
324 | Y>S | No |
ClinGen gnomAD |
|
|
CA404606542 rs1398000694 |
325 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1198785474 CA404606467 |
326 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs754830521 CA9278223 |
326 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA305979421 rs147253682 |
326 | D>H | No |
ClinGen ESP |
|
|
rs1568484909 CA404606425 |
327 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 328 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305979401 rs927113969 |
329 | G>D | No |
ClinGen TOPMed |
|
|
CA305979385 rs976932635 |
331 | A>T | No |
ClinGen Ensembl |
|
|
rs766349117 CA9278221 |
331 | A>V | No |
ClinGen ExAC |
|
|
CA305979343 rs942988020 |
332 | T>I | No |
ClinGen Ensembl |
|
|
CA404606203 rs1454263727 |
334 | G>R | No |
ClinGen gnomAD |
|
|
rs761312779 CA9278217 |
336 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1464373986 CA404605445 |
338 | G>S | No |
ClinGen TOPMed |
|
|
rs998776696 CA305978102 |
338 | G>V | No |
ClinGen TOPMed |
|
|
rs1365106703 CA404605415 |
339 | P>L | No |
ClinGen gnomAD |
|
|
rs371168255 CA9278187 |
343 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748304873 CA9278188 |
343 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA404605356 rs1383489056 |
343 | M>V | No |
ClinGen TOPMed |
|
|
rs1295425719 CA404605321 |
344 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA404605337 rs1442669794 |
344 | D>N | No |
ClinGen gnomAD |
|
|
CA404605306 rs1434314862 |
345 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs768826027 CA9278186 |
346 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9278185 rs749516012 |
347 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA404605269 rs1599715715 |
348 | A>T | No |
ClinGen Ensembl |
|
|
CA9278184 rs138239732 |
353 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404605184 rs1389735275 |
353 | K>R | No |
ClinGen gnomAD |
|
|
CA305978073 rs1021462598 |
355 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9278183 rs150430942 |
356 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9278181 rs140290452 |
356 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200524093 CA305978051 |
360 | E>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs200524093 CA305978053 |
360 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9278175 rs199900092 |
363 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404605034 rs1406524268 |
363 | L>Q | No |
ClinGen TOPMed |
|
|
rs199900092 CA9278174 |
363 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305978033 rs768015132 |
365 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599715644 CA404604977 |
367 | K>R | No |
ClinGen Ensembl |
|
|
CA305978024 rs1037886844 |
370 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9278168 rs140440387 |
372 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375160369 CA9278165 |
372 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 374 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404604827 rs1368274911 |
376 | N>S | No |
ClinGen gnomAD |
|
|
CA404604816 rs372514243 |
377 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1174834467 CA404604778 |
378 | F>L | No |
ClinGen gnomAD |
|
|
CA9278162 rs746938291 |
380 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA404604736 rs1429055211 |
381 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA404604732 rs1183298933 |
381 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9278161 rs777411023 |
382 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 383 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752364126 CA9278159 |
384 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA404604675 rs1469956051 |
384 | L>P | No |
ClinGen gnomAD |
No associated diseases with Q96L12
2 regional properties for Q96L12
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Calreticulin/calnexin, conserved site | 98 - 113 | IPR018124-1 |
| conserved_site | Calreticulin/calnexin, conserved site | 130 - 138 | IPR018124-2 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| metal ion binding | Binding to a metal ion. |
| protein folding chaperone | Binding to a protein or a protein-containing complex to assist the protein folding process. |
| unfolded protein binding | Binding to an unfolded protein. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| protein folding | The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
| ubiquitin-dependent ERAD pathway | The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P52193 | CALR | Calreticulin | Bos taurus (Bovine) | PR |
| Q2TBR8 | CALR3 | Calreticulin-3 | Bos taurus (Bovine) | PR |
| P29413 | Calr | Calreticulin | Drosophila melanogaster (Fruit fly) | PR |
| P27797 | CALR | Calreticulin | Homo sapiens (Human) | PR |
| O14967 | CLGN | Calmegin | Homo sapiens (Human) | PR |
| P27824 | CANX | Calnexin | Homo sapiens (Human) | PR |
| P14211 | Calr | Calreticulin | Mus musculus (Mouse) | PR |
| Q9D9Q6 | Calr3 | Calreticulin-3 | Mus musculus (Mouse) | PR |
| P28491 | CALR | Calreticulin | Sus scrofa (Pig) | PR |
| P18418 | Calr | Calreticulin | Rattus norvegicus (Rat) | PR |
| Q9SLY8 | CRO1 | Calreticulin | Oryza sativa subsp japonica (Rice) | PR |
| P27798 | crt-1 | Calreticulin | Caenorhabditis elegans | PR |
| Q7Z1E6 | crt | Calreticulin | Bombyx mori (Silk moth) | PR |
| Q38858 | CRT2 | Calreticulin-2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O04151 | CRT1 | Calreticulin-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O04153 | CRT3 | Calreticulin-3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARALVQLWA | ICMLRVALAT | VYFQEEFLDG | EHWRNRWLQS | TNDSRFGHFR | LSSGKFYGHK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EKDKGLQTTQ | NGRFYAISAR | FKPFSNKGKT | LVIQYTVKHE | QKMDCGGGYI | KVFPADIDQK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NLNGKSQYYI | MFGPDICGFD | IKKVHVILHF | KNKYHENKKL | IRCKVDGFTH | LYTLILRPDL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SYDVKIDGQS | IESGSIEYDW | NLTSLKKETS | PAESKDWEQT | KDNKAQDWEK | HFLDASTSKQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SDWNGDLDGD | WPAPMLQKPP | YQDGLKPEGI | HKDVWLHRKM | KNTDYLTQYD | LSEFENIGAI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GLELWQVRSG | TIFDNFLITD | DEEYADNFGK | ATWGETKGPE | REMDAIQAKE | EMKKAREEEE |
| 370 | 380 | ||||
| EELLSGKINR | HEHYFNQFHR | RNEL |