P49810
PR
Gene name |
PSEN2 (AD4, PS2, PSNL2, STM2) |
Protein name |
Presenilin-2 |
Names |
PS-2, AD3LP, AD5, E5-1, STM-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5664 |
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
3 structures for P49810
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7Y5X | EM | 300 A | B | 1-448 | PDB |
| 7Y5Z | EM | 340 A | B | 1-448 | PDB |
| AF-P49810-F1 | Predicted | AlphaFoldDB |
397 variants for P49810
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10609253 RCV000317441 rs766853710 RCV000262295 RCV002522116 |
13 | V>A | Alzheimer disease 4 Dilated cardiomyopathy 1V Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001263187 rs143061887 CA1424373 |
18 | T>M | Vascular dementia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001060794 CA1424382 COSM1339319 rs149354305 RCV002553892 |
27 | T>M | Alzheimer disease 4 Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001101118 rs200636353 CA1424391 RCV000894684 |
34 | G>S | Alzheimer disease 4 Dilated cardiomyopathy 1V [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA346593 RCV001097369 rs143501870 RCV000157425 RCV001097368 |
50 | Q>R | Alzheimer disease 4 Primary dilated cardiomyopathy Dilated cardiomyopathy 1V [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001488849 RCV002507535 rs146894466 CA1424429 |
54 | E>D | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000172098 RCV002054033 RCV002469043 CA237501 rs188598190 |
56 | G>S | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001584558 RCV002485611 RCV000687794 rs150400387 CA1424432 |
62 | R>C | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000172777 rs58973334 RCV001664396 RCV000641029 VAR_006461 RCV000283560 CA224946 RCV000084258 |
62 | R>H | Alzheimer disease 4 Alzheimer disease Dilated cardiomyopathy 1V AD4; likely benign variant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002516567 RCV000763832 rs202133351 RCV000172099 CA237503 |
69 | P>A | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs139972151 RCV000172586 CA238430 RCV001852098 |
70 | G>R | Alzheimer disease 4 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_070027 RCV000172587 CA199983 RCV000986559 RCV000861064 RCV001099114 rs140501902 |
71 | R>W | Alzheimer disease 4 Dilated cardiomyopathy 1V AD4; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000800734 rs1405799988 CA345329669 |
81 | L>F | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000009402 RCV000084259 CA224948 rs63750048 |
85 | A>V | Alzheimer disease 4 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA345329807 RCV000806693 rs1571951543 |
102 | V>A | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000084260 VAR_009214 RCV000009397 rs63749851 CA224950 |
122 | T>P | Alzheimer disease 4 AD4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000009399 CA225516 rs28936380 VAR_081261 RCV000084579 |
122 | T>R | Alzheimer disease 4 AD4; increased mitochondrion-endoplasmic reticulum membrane tethering resulting in increased calcium transfer to mitochondria [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_081262 | 126 | E>K | AD4; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000084261 RCV000009401 RCV001642203 CA224951 VAR_064903 RCV000009400 RCV000172588 rs63750197 |
130 | S>L | Alzheimer disease 4 Alzheimer disease Dilated cardiomyopathy 1V CMD1V and AD4; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1424509 RCV001321692 rs756346917 COSM904770 |
134 | R>H | Alzheimer disease 4 Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs749301595 RCV000273377 CA1424511 RCV000300423 |
137 | N>S | Alzheimer disease 4 Dilated cardiomyopathy 1V [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000517898 RCV001101216 rs202178897 RCV001099214 CA1424514 |
139 | V>M | Alzheimer disease 4 Dilated cardiomyopathy 1V [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_006462 RCV000009393 rs63750215 CA224953 RCV000084262 |
141 | N>I | Alzheimer disease 4 AD4; results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio; loss of function as calcium-leak channel; results in calcium overload in the endoplasmic reticulum; increased mitochondrion-endoplasmic reticulum membrane tethering resulting in increased calcium transfer to mitochondria [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs61761208 CA39091726 VAR_081263 |
141 | N>Y | AD4 [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV002513895 CA224954 rs63750812 RCV000084263 VAR_007958 |
148 | V>I | Alzheimer disease 4 AD4; late-onset Alzheimer disease [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000478457 rs866044092 CA16617077 RCV000736268 RCV001865487 |
150 | V>M | Alzheimer disease 4 Huntington disease-like syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs755101354 CA1424529 RCV001248445 |
161 | K>R | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000690412 CA38616630 rs200931244 |
163 | R>C | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000861602 rs61757781 RCV001664491 RCV002487885 CA1424559 |
174 | M>V | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002490889 RCV001857923 CA1424616 RCV001755770 rs367855127 |
238 | L>F | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs63749884 RCV000084266 CA224958 RCV000009398 VAR_009215 |
239 | M>I | Alzheimer disease 4 AD4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA224957 RCV000084265 RCV000009394 VAR_006463 rs28936379 |
239 | M>V | Alzheimer disease 4 AD4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA1424618 rs371562367 RCV001097460 RCV001097459 |
243 | F>L | Alzheimer disease 4 Dilated cardiomyopathy 1V [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1424624 RCV001097462 RCV001097461 rs138836272 |
252 | A>T | Alzheimer disease 4 Dilated cardiomyopathy 1V [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148238688 RCV002507403 CA1424635 RCV000808312 |
258 | A>T | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA1424711 rs781436525 RCV001218471 |
310 | S>P | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000404043 RCV000311630 RCV002472982 rs756225509 CA1424713 |
313 | G>S | Alzheimer disease 4 Dilated cardiomyopathy 1V [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA224959 rs63750207 RCV002490737 RCV000084267 |
334 | P>R | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs143912759 RCV001450646 CA237507 RCV000172101 |
380 | T>K | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001463478 rs143549266 CA1424818 |
388 | T>M | Alzheimer disease 4 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001099324 CA1424823 COSM904779 RCV001531664 RCV001101313 rs142690225 RCV002480468 |
393 | V>M | Alzheimer disease 4 Variant assessed as Somatic; 0.0 impact. endometrium Dilated cardiomyopathy 1V [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001101317 rs756609078 CA1424858 RCV001101316 |
421 | T>M | Alzheimer disease 4 Dilated cardiomyopathy 1V [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000084268 rs63750666 RCV000009396 CA224961 |
430 | T>M | Alzheimer disease 4 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201922151 RCV001101319 RCV001101318 CA1424872 |
435 | R>Q | Alzheimer disease 4 Dilated cardiomyopathy 1V [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000172102 RCV000009395 rs63750110 CA224963 RCV000084269 |
439 | D>A | Alzheimer disease 4 Alzheimer disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199739625 CA345329152 |
2 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs199739625 CA39091322 |
2 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345329161 rs1261261196 |
3 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA345329163 rs1485007322 |
4 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 6 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000172096 CA237497 rs786205285 |
9 | S>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs200878942 CA1424370 |
9 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA345329205 rs1454228189 |
10 | E>K | No |
ClinGen gnomAD |
|
|
rs1275194154 CA345329217 |
11 | E>G | No |
ClinGen TOPMed |
|
|
CA1424371 rs761147472 |
12 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1424372 rs766853710 |
13 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA345329258 rs964890810 |
17 | R>L | No |
ClinGen gnomAD |
|
|
rs964890810 CA39091324 |
17 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000172097 CA237499 rs199644116 |
17 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs752960820 CA1424375 |
21 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1424376 rs552406611 |
22 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757152552 CA1424379 |
24 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424380 rs781116134 |
26 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424381 rs147326133 |
27 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1424385 rs748504448 |
28 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA39091325 rs748504448 |
28 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749015914 CA1424384 |
28 | P>T | No |
ClinGen ExAC TOPMed |
|
|
CA1424387 rs142892469 |
29 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM904769 CA1424388 rs771375988 |
29 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA345329324 rs771375988 |
29 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000712878 CA1424389 rs200037771 |
30 | S>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA1424390 rs760011841 |
32 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345329341 rs1458154730 |
32 | Q>R | No |
ClinGen gnomAD |
|
|
rs1294909986 CA345329345 |
33 | E>K | No |
ClinGen gnomAD |
|
|
CA345329356 rs1439853463 |
34 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA345329360 rs1331745449 |
35 | R>K | No |
ClinGen gnomAD |
|
|
CA345329364 rs1379056144 |
35 | R>S | No |
ClinGen gnomAD |
|
|
rs1389549012 CA345329369 |
36 | Q>R | No |
ClinGen gnomAD |
|
|
rs1231154581 CA345329376 |
37 | G>D | No |
ClinGen TOPMed |
|
|
rs1558143495 CA345329375 |
37 | G>R | No |
ClinGen Ensembl |
|
|
rs1306395711 CA345329398 |
40 | D>V | No |
ClinGen gnomAD |
|
|
rs1247314279 CA345329414 |
42 | E>D | No |
ClinGen gnomAD |
|
|
CA345329422 rs6759 |
43 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA39091328 rs200535276 |
44 | T>A | No |
ClinGen Ensembl |
|
|
CA345329423 rs200535276 |
44 | T>P | No |
ClinGen Ensembl |
|
|
CA1424395 rs751593722 |
45 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757319285 CA1424396 |
46 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412682521 CA345329443 |
47 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1051303953 CA39091510 |
49 | S>N | No |
ClinGen TOPMed |
|
|
rs1558144887 TCGA novel CA345329487 |
51 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1424426 rs775935657 |
52 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1216954105 CA345329497 |
53 | E>K | No |
ClinGen gnomAD |
|
|
CA345329517 rs139332886 |
55 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 58 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767577993 CA345329546 |
59 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150400387 CA39091512 |
62 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1420351247 CA345329573 |
64 | V>I | No |
ClinGen gnomAD |
|
|
CA1424433 rs766446160 |
65 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753871802 CA1424434 |
66 | S>C | No |
ClinGen ExAC TOPMed |
|
|
rs754836755 CA1424435 |
66 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1424436 rs765144719 |
68 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1424440 rs199968912 |
69 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1424438 rs202133351 |
69 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202133351 CA1424439 |
69 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769031756 CA1424442 |
71 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424443 rs769031756 |
71 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369622085 CA39091514 |
72 | P>L | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 73 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748397935 CA1424444 |
73 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1191712803 CA345329627 |
74 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 74 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 76 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1424447 rs760961297 |
79 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA345329670 rs1405799988 |
81 | L>V | No |
ClinGen gnomAD |
|
|
RCV000994268 rs1165738559 CA345329677 |
82 | K>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA345329686 rs1397211780 |
83 | Y>C | No |
ClinGen gnomAD |
|
|
rs776842226 CA1424449 |
84 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA345329690 rs1302750366 |
84 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1424452 rs758086169 |
88 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758086169 RCV000516358 CA345329716 |
88 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA345329723 rs1222893058 |
89 | I>F | No |
ClinGen gnomAD |
|
|
rs1273401433 CA345329725 |
89 | I>T | No |
ClinGen gnomAD |
|
|
rs979496823 CA345329728 |
90 | M>L | No |
ClinGen gnomAD |
|
|
rs979496823 CA39091515 |
90 | M>V | No |
ClinGen gnomAD |
|
|
CA345329748 rs1423465515 |
92 | F>L | No |
ClinGen TOPMed |
|
|
CA1424455 rs756899463 |
98 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA1424456 rs780738564 |
98 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1424458 rs755514702 |
99 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1182707759 CA345329794 |
100 | I>V | No |
ClinGen gnomAD |
|
|
rs373392465 CA39091517 |
101 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1571951561 RCV000994269 CA345329827 |
105 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs778247625 CA1424462 |
108 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA39091518 rs912747670 |
109 | V>M | No |
ClinGen Ensembl |
|
|
CA39091519 rs199808788 |
110 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs747296921 COSM1263231 CA1424464 |
110 | R>H | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1424463 rs747296921 |
110 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432829739 CA345329857 |
111 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 115 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345329902 rs1339822609 |
117 | G>R | No |
ClinGen gnomAD |
|
|
rs1197522657 CA345329907 |
117 | G>V | No |
ClinGen gnomAD |
|
|
CA345329945 rs1325639403 |
121 | Y>C | No |
ClinGen gnomAD |
|
|
rs28936380 CA1424501 |
122 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1345586077 CA345329959 |
124 | F>L | No |
ClinGen gnomAD |
|
|
CA39091725 rs566361436 |
128 | T>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs752002301 CA1424506 |
128 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1196104597 CA345329992 |
129 | P>T | No |
ClinGen gnomAD |
|
|
rs746117072 CA1424508 |
133 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345330023 rs1363866270 |
134 | R>C | No |
ClinGen gnomAD |
|
|
CA1424510 rs756346917 |
134 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345330031 rs1272015481 |
135 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1424515 rs202178897 |
139 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760299337 CA1424517 |
140 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA345330069 rs1558146892 |
142 | T>I | No |
ClinGen Ensembl |
|
|
rs201590095 CA1424519 |
142 | T>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA39091727 rs903335386 |
143 | L>F | No |
ClinGen Ensembl |
|
|
CA345330074 rs1553268180 |
143 | L>H | No |
ClinGen Ensembl |
|
|
rs764718172 CA1424521 |
144 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA345330089 rs1260339051 |
145 | M>I | No |
ClinGen gnomAD |
|
|
CA39091728 rs1004970794 |
146 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1215971988 CA345330093 |
146 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201892898 CA1424522 |
147 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA345330120 rs1178986694 |
151 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 152 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199654606 CA38616585 |
152 | M>T | No |
ClinGen Ensembl |
|
|
rs1410810723 CA345038658 |
152 | M>V | No |
ClinGen gnomAD |
|
|
CA345038712 rs139573101 |
154 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139573101 CA1424525 |
154 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756296193 CA1424526 |
156 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs780284265 CA1424528 |
157 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs780284265 CA1424527 |
157 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA345038945 rs1571955100 |
162 | Y>S | No |
ClinGen Ensembl |
|
|
CA1424530 rs778936527 |
163 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200931244 CA38616624 |
163 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1407588878 CA345038999 |
164 | C>R | No |
ClinGen gnomAD |
|
|
rs1163242089 CA345039018 |
164 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs748154107 CA1424531 |
165 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA345039057 rs1372631344 |
166 | K>Q | No |
ClinGen TOPMed |
|
|
CA345039752 rs1553268488 |
167 | F>I | No |
ClinGen Ensembl |
|
|
rs533813519 CA1424557 |
169 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775145486 CA1424560 |
175 | S>C | No |
ClinGen ExAC |
|
|
rs772480664 CA1424562 |
177 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1304775005 CA345039863 |
179 | L>M | No |
ClinGen gnomAD |
|
|
rs1343351444 CA345039908 |
182 | L>F | No |
ClinGen TOPMed |
|
|
CA1424567 rs766799482 |
182 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs779463423 CA1424568 |
183 | F>* | No |
ClinGen ExAC |
|
|
CA38618943 rs200210453 |
184 | T>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1424569 rs567036599 |
185 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA38618966 rs567036599 |
185 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345039975 rs1401090704 |
186 | I>V | No |
ClinGen TOPMed |
|
|
CA1424571 rs371686514 |
189 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA38619864 rs202176021 |
190 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 194 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA38619870 rs200410369 |
195 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1424590 rs753009383 |
196 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs751577358 CA1424593 |
197 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA1424592 rs770238439 |
197 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM459570 rs757273954 CA1424594 |
198 | A>S | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs767523385 CA345040285 CA1424595 |
199 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424596 rs750266631 |
202 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 203 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571960592 CA345040315 |
203 | T>P | No |
ClinGen Ensembl |
|
|
CA345040326 rs1232714297 |
204 | L>F | No |
ClinGen TOPMed |
|
|
CA345040379 rs199760083 CA1424602 |
211 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201671829 CA38619994 |
211 | F>V | No |
ClinGen Ensembl |
|
|
rs200173519 CA1424603 |
212 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA345040385 rs1188914591 |
213 | A>T | No |
ClinGen gnomAD |
|
|
CA1424605 rs574125890 |
214 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1424606 COSM1339321 rs574125890 |
214 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 215 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163002302 CA345040400 |
215 | G>V | No |
ClinGen gnomAD |
|
|
CA345040419 rs1418449389 |
218 | C>Y | No |
ClinGen TOPMed |
|
|
CA345040460 rs1163620977 |
222 | K>T | No |
ClinGen TOPMed |
|
|
CA1424608 rs763295042 |
225 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA345040490 rs1412078378 |
225 | L>V | No |
ClinGen gnomAD |
|
|
CA345040507 rs1408884573 |
226 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA345040519 rs1571960781 |
228 | Q>* | No |
ClinGen Ensembl |
|
|
RCV000084264 rs63750880 CA224955 |
228 | Q>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA1424612 rs200754713 |
231 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
rs750424014 CA1424613 |
233 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA38620101 rs201908554 |
233 | I>V | No |
ClinGen Ensembl |
|
|
CA345040604 rs1571960850 |
234 | M>I | No |
ClinGen Ensembl |
|
|
rs200670135 COSM1339322 CA237505 RCV000172100 |
237 | A>V | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA345040662 rs1211631545 |
238 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA345040674 CA38620196 rs28936379 |
239 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1424617 rs778393774 |
240 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA38620216 rs200133314 |
242 | V>A | No |
ClinGen Ensembl |
|
|
rs1213166860 CA345040794 |
245 | K>R | No |
ClinGen TOPMed |
|
|
CA345040836 rs1166634443 |
246 | Y>C | No |
ClinGen gnomAD |
|
|
rs777235854 CA1424620 |
246 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1424621 rs140562931 |
247 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1424626 rs201403206 |
252 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201403206 CA1424625 COSM425469 |
252 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1424629 rs773410250 |
254 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1320438 CA38620266 rs201292728 |
255 | I>F | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA1424631 rs766159571 |
257 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424632 rs369429245 |
257 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345041132 rs1444327784 |
258 | A>D | No |
ClinGen gnomAD |
|
|
rs148238688 CA38620285 |
258 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444327784 CA345041137 COSM1689922 |
258 | A>V | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs201055590 CA1424637 |
261 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 262 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200694973 CA38621317 |
264 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs199707432 CA1424661 |
265 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38621347 rs77421307 |
267 | V>G | No |
ClinGen Ensembl |
|
|
CA345041933 rs1337767664 |
271 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1424664 rs755495216 |
272 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs903864616 CA38621367 |
273 | P>L | No |
ClinGen TOPMed |
|
|
rs779431743 CA1424665 |
273 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA345041959 rs1558150686 |
276 | M>V | No |
ClinGen Ensembl |
|
|
rs1216147370 CA345041970 |
277 | L>P | No |
ClinGen gnomAD |
|
|
rs772451160 CA1424667 |
281 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 281 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345042003 rs1318395368 |
282 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 284 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345042015 rs1208742830 |
284 | R>G | No |
ClinGen gnomAD |
|
|
rs150780392 CA1424668 |
285 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1358203358 CA345042049 |
288 | I>M | No |
ClinGen TOPMed |
|
|
CA345042044 rs1179531038 |
288 | I>V | No |
ClinGen gnomAD |
|
|
CA345042064 rs1296772638 |
291 | A>T | No |
ClinGen TOPMed |
|
|
rs374055800 CA1424670 |
291 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776770770 CA1424671 |
292 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1424672 rs199689738 |
293 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345042093 rs1457292868 |
294 | Y>C | No |
ClinGen gnomAD |
|
|
rs769715316 CA1424673 |
294 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA345042103 rs1172437165 |
295 | S>A | No |
ClinGen TOPMed |
|
|
CA38621440 rs200668817 |
295 | S>L | No |
ClinGen Ensembl |
|
|
CA345042120 rs1410382029 |
296 | S>P | No |
ClinGen gnomAD |
|
|
CA345042402 rs1482790603 |
298 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1254068585 CA345042390 |
298 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 299 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144277432 CA1424705 |
301 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760178182 CA1424704 |
301 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200501733 CA1424709 |
305 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345042540 rs200501733 |
305 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200501733 CA1424708 |
305 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571965769 CA345042587 |
308 | D>A | No |
ClinGen Ensembl |
|
|
rs1558151721 CA345042666 |
313 | G>V | No |
ClinGen Ensembl |
|
|
CA345042685 rs1434992855 |
315 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA38622613 rs201778576 |
316 | Q>R | No |
ClinGen Ensembl |
|
|
CA345042711 rs1441500930 |
317 | L>F | No |
ClinGen TOPMed |
|
|
CA1424717 rs547494670 |
319 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1424720 rs565698726 |
320 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1424719 rs565698726 |
320 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA38622646 rs753390653 |
321 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA345042755 rs1311206219 |
321 | P>L | No |
ClinGen gnomAD |
|
|
CA345042754 rs753390653 |
321 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs760376643 CA1424721 |
322 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1227564684 CA345042788 |
324 | E>G | No |
ClinGen gnomAD |
|
|
rs778824612 CA1424753 |
325 | E>* | No |
ClinGen ExAC |
|
| TCGA novel | 326 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA38623197 rs994711686 |
328 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA345042860 rs1571966949 |
330 | S>G | No |
ClinGen Ensembl |
|
|
rs200044441 CA38623221 |
331 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1424755 rs373934941 |
331 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs991591942 CA38623223 |
332 | G>R | No |
ClinGen Ensembl |
|
|
CA1424756 rs758259518 |
333 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1424758 rs777639021 |
334 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38623233 rs63750207 |
334 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345042933 rs777639021 |
334 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424757 rs777639021 |
334 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 337 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs559617407 CA1424762 |
338 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1429871582 CA345043373 |
339 | V>A | No |
ClinGen gnomAD |
|
|
rs201917728 CA38623263 |
339 | V>I | No |
ClinGen Ensembl |
|
|
CA345043386 rs1169869995 |
341 | E>A | No |
ClinGen gnomAD |
|
|
CA345043393 rs1334646336 |
342 | P>H | No |
ClinGen gnomAD |
|
|
CA1424765 rs773597667 |
342 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA345043417 rs1365789341 |
346 | G>D | No |
ClinGen gnomAD |
|
|
rs956708647 CA38623295 |
346 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1424767 rs766705508 |
347 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA345043423 rs1357215918 |
347 | Y>S | No |
ClinGen TOPMed |
|
|
CA1424768 rs776874000 |
348 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345043431 rs1558152347 |
348 | P>L | No |
ClinGen Ensembl |
|
|
rs759669954 CA1424769 |
349 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38623304 rs78420366 |
350 | E>G | No |
ClinGen gnomAD |
|
|
CA345043441 rs78420366 |
350 | E>V | No |
ClinGen gnomAD |
|
|
rs765420103 CA1424770 |
351 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 356 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200977587 CA345043486 |
356 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1304206650 CA345043482 |
356 | E>Q | No |
ClinGen TOPMed |
|
|
rs940775081 CA38625161 |
358 | R>T | No |
ClinGen Ensembl |
|
|
CA1424798 rs779522932 |
359 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 359 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1424801 rs563053551 |
360 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449580232 CA345043926 |
365 | G>R | No |
ClinGen gnomAD |
|
|
CA345043933 rs1571971147 |
366 | D>A | No |
ClinGen Ensembl |
|
|
rs1412191218 CA345043930 |
366 | D>N | No |
ClinGen gnomAD |
|
|
rs781543554 CA1424804 |
370 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs746182253 CA1424805 |
374 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1347757721 CA345043996 |
375 | G>A | No |
ClinGen TOPMed |
|
|
CA345044008 rs1553269274 |
377 | A>T | No |
ClinGen Ensembl |
|
|
CA1424808 COSM95094 rs199714082 |
377 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs774513973 CA1424810 |
378 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345044022 rs1571971275 |
379 | A>G | No |
ClinGen Ensembl |
|
|
CA38625284 RCV000992721 rs143912759 |
380 | T>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA345044024 rs1571971289 |
380 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 381 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345044043 rs1481333447 |
382 | S>N | No |
ClinGen TOPMed |
|
|
CA38625320 rs760432548 |
382 | S>R | No |
ClinGen ExAC |
|
|
rs145671982 CA1424815 |
383 | G>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1056738883 CA38625341 |
383 | G>R | No |
ClinGen TOPMed |
|
|
CA38625362 rs199550349 |
384 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345044076 rs1247619190 |
384 | D>Y | No |
ClinGen gnomAD |
|
|
rs753499090 CA1424816 |
385 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs149172004 CA345044114 |
386 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149172004 CA1424817 |
386 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867544084 CA38625419 |
387 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1571971434 CA345044136 |
387 | T>P | No |
ClinGen Ensembl |
|
|
rs1424371036 CA345044185 |
390 | A>D | No |
ClinGen gnomAD |
|
|
CA345044190 rs1424371036 |
390 | A>V | No |
ClinGen gnomAD |
|
|
rs1211351135 CA345044215 |
392 | F>I | No |
ClinGen gnomAD |
|
|
CA345044222 rs1166806703 |
392 | F>S | No |
ClinGen gnomAD |
|
|
rs780464244 CA1424824 |
396 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768931743 CA1424826 |
397 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1312341854 CA345044637 |
401 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1424849 rs746930366 |
402 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1254009383 CA345044683 |
403 | L>F | No |
ClinGen gnomAD |
|
|
rs770838733 CA1424850 |
403 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1250032273 CA345044709 |
404 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA38626795 rs996537968 |
406 | L>F | No |
ClinGen TOPMed |
|
|
CA1424851 rs371315050 |
407 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 410 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1424852 rs759282140 |
410 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1424853 rs764998593 |
411 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1028051676 CA38626838 |
412 | A>S | No |
ClinGen TOPMed |
|
|
CA1424854 rs775164469 COSM210191 |
412 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1424856 rs200427880 |
414 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA38626876 rs201494033 |
415 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA345045007 rs1428041648 |
416 | L>F | No |
ClinGen gnomAD |
|
|
CA345045027 rs1558155779 |
417 | P>T | No |
ClinGen Ensembl |
|
|
rs199796978 CA38626888 |
418 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 420 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345045098 rs1558155801 |
420 | I>V | No |
ClinGen Ensembl |
|
|
CA1424862 rs200169735 |
422 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1322531425 CA345045223 |
424 | L>P | No |
ClinGen gnomAD |
|
|
CA1424864 rs758586194 |
425 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1269947504 CA345045252 |
426 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1215228645 CA345045297 |
427 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs747074838 CA1424866 |
427 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA345045349 rs1171781705 |
429 | S>F | No |
ClinGen TOPMed |
|
|
CA1424867 rs776603544 |
431 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs199676786 CA1424868 |
432 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 433 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775252540 CA1424870 |
434 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1424871 rs142772982 |
435 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1424875 rs749755334 |
436 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749755334 CA1424874 |
436 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348537252 CA345045574 |
438 | M>I | No |
ClinGen gnomAD |
|
|
rs750161150 CA38627030 |
438 | M>T | No |
ClinGen Ensembl |
|
|
rs200804459 CA38627022 |
438 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 439 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345045638 rs1290745933 |
440 | T>I | No |
ClinGen gnomAD |
|
|
rs1219418229 CA345045688 |
443 | S>C | No |
ClinGen gnomAD |
|
|
rs151048692 CA1424878 |
444 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345045793 rs1250055129 |
447 | Y>H | No |
ClinGen gnomAD |
|
|
rs778005647 CA1424880 |
448 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
2 associated diseases with P49810
[MIM: 606889]: Alzheimer disease 4 (AD4)
A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. {ECO:0000269|PubMed:10631141, ECO:0000269|PubMed:10732806, ECO:0000269|PubMed:14681895, ECO:0000269|PubMed:16752394, ECO:0000269|PubMed:16959576, ECO:0000269|PubMed:21285369, ECO:0000269|PubMed:21544564, ECO:0000269|PubMed:22503161, ECO:0000269|PubMed:24838186, ECO:0000269|PubMed:24844686, ECO:0000269|PubMed:7638622, ECO:0000269|PubMed:7651536, ECO:0000269|PubMed:9384602}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613697]: Cardiomyopathy, dilated 1V (CMD1V)
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:17186461}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. {ECO:0000269|PubMed:10631141, ECO:0000269|PubMed:10732806, ECO:0000269|PubMed:14681895, ECO:0000269|PubMed:16752394, ECO:0000269|PubMed:16959576, ECO:0000269|PubMed:21285369, ECO:0000269|PubMed:21544564, ECO:0000269|PubMed:22503161, ECO:0000269|PubMed:24838186, ECO:0000269|PubMed:24844686, ECO:0000269|PubMed:7638622, ECO:0000269|PubMed:7651536, ECO:0000269|PubMed:9384602}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:17186461}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P49810
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P49810 | |||
29 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| ciliary rootlet | A cytoskeleton-like structure, originating from the basal body at the proximal end of a cilium, and extending proximally toward the cell nucleus. Rootlets are typically 80-100 nm in diameter and contain cross striae distributed at regular intervals of approximately 55-70 nm. |
| dendritic shaft | Cylindric portion of the dendrite, directly stemming from the perikaryon, and carrying the dendritic spines. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| 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. |
| gamma-secretase complex | A protein complex that has aspartic-type endopeptidase activity and contains a presenilin catalytic subunit (either PSEN1 or PSEN2), an APH1 subunit (multiple genes and splice variants exist), nicastrin (NCT), and presenilin enhancer (aka PEN-2 or Psenen), as the core complex. Variants of the complex with different subunit compositions differ in localization and specific substrates. Additionally, variants of the complex exist that contain a additional regulatory subunit as well as the four core subunits; known regulatory subunits include gamma-secretase-activating protein (aka gSAP), TMP1 (aka TMED10), and CD147 antigen (aka basigin). Gamma-secretase cleaves type I transmembrane protein substrates, including the cell surface receptor Notch and the amyloid-beta precursor protein. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of presynaptic membrane | The component of the presynaptic 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. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| neuromuscular junction | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| nuclear inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| aspartic endopeptidase activity, intramembrane cleaving | Catalysis of the hydrolysis of nonterminal peptide bonds in a polypeptide chain, occurring within a membrane. |
| endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| amyloid precursor protein catabolic process | The chemical reactions and pathways resulting in the breakdown of amyloid precursor protein (APP), the precursor of amyloid-beta, a glycoprotein associated with Alzheimer's disease. |
| amyloid-beta formation | The generation of amyloid-beta by cleavage of the amyloid precursor protein (APP). |
| amyloid-beta metabolic process | The chemical reactions and pathways involving amyloid-beta, a glycoprotein associated with Alzheimer's disease, and its precursor, amyloid precursor protein (APP). |
| calcium ion transport | The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| membrane protein ectodomain proteolysis | The proteolytic cleavage of transmembrane proteins and release of their ectodomain (extracellular domain). |
| mitochondrion-endoplasmic reticulum membrane tethering | The attachment of a mitochondrion and an endoplasmic reticulum via molecular tethers that physically bridge their respective membranes and attach them to each other. The tethering may facilitate exchange of metabolites between the organelles. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| Notch receptor processing | The series of successive proteolytic cleavages of the Notch protein, which result in an active form of the receptor. |
| Notch signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| positive regulation of catalytic activity | Any process that activates or increases the activity of an enzyme. |
| protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. |
| regulation of calcium import into the mitochondrion | Any process that modulates the frequency, rate or extent of calcium import into the mitochondrion. |
| response to hypoxia | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLTFMASDSE | EEVCDERTSL | MSAESPTPRS | CQEGRQGPED | GENTAQWRSQ | ENEEDGEEDP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DRYVCSGVPG | RPPGLEEELT | LKYGAKHVIM | LFVPVTLCMI | VVVATIKSVR | FYTEKNGQLI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YTPFTEDTPS | VGQRLLNSVL | NTLIMISVIV | VMTIFLVVLY | KYRCYKFIHG | WLIMSSLMLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FLFTYIYLGE | VLKTYNVAMD | YPTLLLTVWN | FGAVGMVCIH | WKGPLVLQQA | YLIMISALMA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LVFIKYLPEW | SAWVILGAIS | VYDLVAVLCP | KGPLRMLVET | AQERNEPIFP | ALIYSSAMVW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TVGMAKLDPS | SQGALQLPYD | PEMEEDSYDS | FGEPSYPEVF | EPPLTGYPGE | ELEEEEERGV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KLGLGDFIFY | SVLVGKAAAT | GSGDWNTTLA | CFVAILIGLC | LTLLLLAVFK | KALPALPISI |
| 430 | 440 | ||||
| TFGLIFYFST | DNLVRPFMDT | LASHQLYI |