P43243
PR
Gene name |
MATR3 (KIAA0723) |
Protein name |
Matrin-3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9782 |
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 P43243
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P43243-F1 | Predicted | AlphaFoldDB |
500 variants for P43243
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1754770320 RCV001339294 |
29 | L>F | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_074067 | 72 | A>T | ALS21; unknown pathological significance [UniProt] | Yes | UniProt |
|
VAR_063421 CA123688 RCV000015039 RCV000517083 rs121434591 |
85 | S>C | Amyotrophic lateral sclerosis type 21 ALS21; results in increased interaction with TARDBP [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_074068 rs528548235 RCV000876494 CA3432887 |
89 | I>V | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA361486894 rs1460343731 RCV001068945 |
91 | S>N | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA361486964 rs1327023414 RCV000813646 |
102 | R>C | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM1433450 rs886059988 CA10622822 RCV000318182 RCV002520321 |
102 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases Amyotrophic lateral sclerosis type 21 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000651343 CA3432897 rs745440760 |
108 | A>S | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000509251 rs1554146456 CA361487046 |
114 | S>T | MATR3-Related Disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587777300 CA151202 VAR_071078 RCV000114430 |
115 | F>C | Amyotrophic lateral sclerosis type 21 ALS21 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs761842979 CA3432902 RCV000386669 |
131 | D>E | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_078513 | 147 | R>W | ALS21; unknown pathological significance [UniProt] | Yes | UniProt |
|
VAR_071079 CA151206 RCV000114432 rs587777302 |
154 | P>S | Variant assessed as Somatic; impact. Amyotrophic lateral sclerosis type 21 ALS21; unknown pathological significance [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs760040641 RCV001039651 |
165 | A>missing | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3432916 RCV000815060 rs374819399 |
187 | D>E | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1754795693 RCV001038529 |
210 | E>missing | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350004 CA3432931 rs200871699 |
230 | C>F | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000559243 rs1554146560 CA361488081 |
265 | L>I | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204628 rs1318047828 CA361488233 |
286 | P>L | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000938830 CA3432992 rs553687055 |
337 | H>R | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000806815 rs201075828 RCV001683661 CA3433059 |
378 | A>T | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs948428305 CA128233476 RCV001225561 |
380 | N>S | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1291862870 RCV001152517 CA361139928 |
412 | R>K | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000821843 rs781213918 CA3433132 |
455 | T>A | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1581251198 RCV000822652 CA361141657 |
524 | K>N | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1033118784 CA128235436 RCV000701422 |
533 | S>N | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs748592981 CA3433205 RCV001241398 |
546 | M>I | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587777301 CA151204 RCV000114431 VAR_071080 |
622 | T>A | Amyotrophic lateral sclerosis type 21 ALS21 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000798630 rs1488614478 CA361143749 |
625 | K>T | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3433262 rs772231433 RCV000260341 |
627 | Q>E | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1186297721 RCV001069387 |
629 | E>missing | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207013 rs1755638457 |
635 | G>D | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA361143841 rs1554148872 RCV000532514 |
638 | D>H | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs749026971 RCV000701899 CA3433278 |
650 | M>L | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10619143 RCV000356239 rs886059991 |
652 | L>F | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3433283 VAR_074069 rs139589527 RCV000878495 |
664 | E>A | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs752161415 RCV001303912 |
680 | D>H | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000540960 rs752161415 CA3433292 |
680 | D>N | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3433296 rs765251685 RCV001044551 |
689 | S>Y | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3433300 RCV001153796 rs201970174 |
705 | S>I | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3433379 rs764645698 RCV000651344 |
721 | E>K | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA361146078 rs1468138513 RCV000692217 |
727 | N>S | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3433389 RCV000690146 rs538917496 |
738 | E>G | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001060978 rs1452954379 CA361146259 |
743 | P>S | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001156424 CA3433393 rs772433814 |
745 | A>P | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000696564 rs199797401 CA3433394 |
745 | A>V | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs772562504 CA3433397 RCV000326793 |
748 | S>P | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001065282 rs1016579955 |
753 | D>missing | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3433407 RCV000793657 rs757346695 |
758 | T>K | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3433410 RCV000705131 rs758675030 |
761 | N>S | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001303209 rs1755815403 |
770 | K>N | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774070119 CA3433417 RCV001045645 |
772 | D>N | Variant assessed as Somatic; 0.0 impact. Amyotrophic lateral sclerosis type 21 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001156426 COSM589844 CA3433421 rs368217486 RCV002557335 |
773 | Y>C | lung Inborn genetic diseases Amyotrophic lateral sclerosis type 21 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000951885 CA3433420 rs368217486 RCV003169466 |
773 | Y>S | Inborn genetic diseases Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3433425 rs765284792 RCV001035351 |
786 | P>R | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs148402819 RCV000546501 VAR_074070 RCV001672649 CA3433426 |
787 | N>S | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3433486 rs201165929 RCV000703755 |
835 | N>S | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002225605 RCV000651345 rs781050726 CA3433487 COSM1433458 |
841 | R>C | large_intestine Amyotrophic lateral sclerosis type 21 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3433488 RCV000808402 rs749235364 |
842 | R>T | Amyotrophic lateral sclerosis type 21 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 5 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1448822573 CA361486352 |
8 | S>L | No |
ClinGen gnomAD |
|
|
rs1307463743 CA361486359 |
9 | S>C | No |
ClinGen gnomAD |
|
|
rs1307463743 CA361486360 |
9 | S>F | No |
ClinGen gnomAD |
|
|
rs769355543 CA128744108 |
11 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 12 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225210112 CA361486375 |
12 | R>W | No |
ClinGen TOPMed |
|
|
CA3432864 rs760526286 |
14 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760526286 CA361486390 |
14 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764150393 CA3432865 |
16 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs753838656 CA3432866 |
17 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs757397034 CA3432867 |
19 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs866372806 CA128744109 |
23 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA361486475 rs1418910027 |
28 | L>V | No |
ClinGen gnomAD |
|
|
rs780567202 CA3432872 |
32 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3432873 rs747469006 |
34 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA128744111 rs866646054 |
36 | L>S | No |
ClinGen Ensembl |
|
| TCGA novel | 38 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781744321 CA3432875 |
38 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3432876 rs748710452 |
40 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1040484039 CA128744112 |
44 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 45 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs929227491 CA128744114 |
53 | A>V | No |
ClinGen TOPMed |
|
|
rs771780161 CA3432880 |
61 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA361486700 rs1357612214 |
62 | S>P | No |
ClinGen gnomAD |
|
|
CA361486708 rs1234071342 |
63 | S>L | No |
ClinGen gnomAD |
|
|
CA3432882 rs760566538 |
65 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1332715729 CA361486747 |
69 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361486755 rs1206688592 |
70 | H>D | No |
ClinGen gnomAD |
|
|
CA361486757 rs1581234637 |
70 | H>R | No |
ClinGen Ensembl |
|
|
rs768446810 CA3432883 |
71 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1431827812 CA361486763 |
71 | S>N | No |
ClinGen TOPMed |
|
|
rs1252721771 CA361486773 |
72 | A>V | No |
ClinGen TOPMed |
|
|
CA3432884 rs776661539 |
76 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs761748324 CA3432885 |
77 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1475340889 CA361486806 |
78 | T>N | No |
ClinGen gnomAD |
|
|
CA361486820 rs1561933164 |
80 | S>F | No |
ClinGen Ensembl |
|
|
CA361486825 rs1186726385 |
81 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1468627549 CA361486822 |
81 | H>Y | No |
ClinGen TOPMed |
|
|
rs201277902 CA3432886 |
86 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361486880 rs528548235 |
89 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1368552341 CA361486906 |
93 | G>S | No |
ClinGen TOPMed |
|
|
rs766762054 CA3432889 |
94 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3432890 rs751843150 |
96 | P>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 96 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441991603 CA361486928 |
97 | L>V | No |
ClinGen TOPMed |
|
|
CA3432892 rs781505263 |
99 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs753264495 CA3432893 |
104 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA361487003 rs745440760 |
108 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA361487008 rs1255035245 |
109 | S>G | No |
ClinGen gnomAD |
|
|
rs1486642633 CA361487013 |
109 | S>R | No |
ClinGen gnomAD |
|
|
CA361487018 RCV000497655 rs1433371817 |
110 | N>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA3432898 rs771690260 |
113 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 118 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 121 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768516057 CA3432900 |
127 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361487133 rs1433930529 |
127 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1171517653 CA361487141 |
128 | Y>F | No |
ClinGen gnomAD |
|
|
rs1289542450 CA361487177 |
133 | I>T | No |
ClinGen gnomAD |
|
|
CA3432903 rs769914717 |
135 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773408285 CA3432904 |
141 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1278554031 CA361487241 |
143 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1318370312 CA361487251 |
144 | Q>H | No |
ClinGen gnomAD |
|
|
rs763170646 CA3432905 |
147 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1012961702 | 149 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561933342 CA361487311 |
153 | G>C | No |
ClinGen Ensembl |
|
|
CA128744118 rs145034978 |
155 | T>N | No |
ClinGen ESP |
|
|
CA3432906 rs766473689 |
155 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA361487325 rs1194943542 |
156 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1191529191 CA361487385 |
164 | S>C | No |
ClinGen gnomAD |
|
|
CA3432909 rs759763701 |
167 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA128744119 rs138894013 |
167 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs1455765639 CA361487469 |
177 | D>V | No |
ClinGen gnomAD |
|
|
CA361487481 rs1372371640 |
179 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 180 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361487513 rs1301730607 |
183 | H>D | No |
ClinGen gnomAD |
|
|
CA3432912 rs756601361 |
184 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3432913 rs370460445 |
184 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128744120 rs774803066 |
185 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 185 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 186 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 189 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 192 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754659221 CA361487581 |
192 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3432918 rs754659221 |
192 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs781034288 CA3432919 |
195 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1211696192 CA361487604 |
196 | L>V | No |
ClinGen gnomAD |
|
|
rs748010020 CA3432920 |
197 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA128744122 rs148980401 |
198 | P>A | No |
ClinGen ESP |
|
|
rs1470416118 CA361487637 |
201 | D>G | No |
ClinGen gnomAD |
|
|
CA361487644 rs1407620934 |
202 | Y>F | No |
ClinGen gnomAD |
|
|
CA361487652 rs1167212428 |
203 | D>G | No |
ClinGen gnomAD |
|
|
CA361487649 rs1471697720 |
203 | D>H | No |
ClinGen gnomAD |
|
|
rs1406174894 CA361487661 |
204 | H>R | No |
ClinGen TOPMed |
|
|
CA3432922 rs190049582 |
207 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749335257 CA3432923 |
207 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749335257 CA361487681 |
207 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771057884 CA3432924 |
210 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA361487708 rs1183626149 |
211 | S>C | No |
ClinGen gnomAD |
|
|
rs759801664 COSM1328255 CA3432926 |
216 | R>K | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs759621063 CA3432927 |
217 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1370743188 CA361487746 |
217 | M>V | No |
ClinGen gnomAD |
|
|
rs1333566052 CA361487772 |
220 | E>A | No |
ClinGen gnomAD |
|
|
rs764544169 CA3432930 |
229 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs200871699 CA128744126 |
230 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757787562 CA3432932 |
232 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA361487862 rs1230910409 |
233 | D>N | No |
ClinGen gnomAD |
|
|
rs1561933598 CA361487866 |
233 | D>V | No |
ClinGen Ensembl |
|
|
CA128744127 rs56286276 |
234 | S>P | No |
ClinGen Ensembl |
|
|
rs192888077 CA128744128 |
236 | F>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 237 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361487920 rs1474950644 |
241 | H>R | No |
ClinGen gnomAD |
|
|
CA128744130 rs769366911 |
243 | Y>N | No |
ClinGen Ensembl |
|
|
CA361487942 rs1422275487 |
244 | H>P | No |
ClinGen gnomAD |
|
|
CA361487948 rs1410961276 |
245 | K>E | No |
ClinGen gnomAD |
|
|
CA361487957 rs1328628722 |
246 | F>V | No |
ClinGen gnomAD |
|
|
rs754641797 CA3432936 |
247 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3432935 rs751094573 |
247 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1031948008 CA128744131 |
250 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3432939 rs755999948 |
251 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1223486512 CA361487995 |
251 | E>G | No |
ClinGen TOPMed |
|
|
CA361488009 rs1351661432 |
253 | M>T | No |
ClinGen TOPMed |
|
|
CA3432940 rs777798560 |
253 | M>V | No |
ClinGen ExAC gnomAD |
|
|
COSM252601 rs749245217 CA3432941 |
255 | R>C | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1561933691 CA361488024 |
255 | R>H | No |
ClinGen Ensembl |
|
|
CA3432942 rs372859031 |
256 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774478774 CA3432943 |
257 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs745984050 CA3432944 |
257 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1258557290 CA361488039 |
258 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 260 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772308391 CA3432945 |
261 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA361488070 rs1554146558 |
263 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 264 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 272 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476045080 CA361488135 |
272 | A>V | No |
ClinGen gnomAD |
|
|
CA3432947 rs568839934 |
274 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375756727 CA3432949 |
275 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs762374587 CA3432950 |
276 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361488159 rs762374587 |
276 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361488167 rs1343841686 |
277 | N>S | No |
ClinGen TOPMed |
|
|
rs765718462 CA3432951 |
278 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 282 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361488217 rs1393877421 |
284 | L>F | No |
ClinGen gnomAD |
|
|
CA361488216 rs1393877421 |
284 | L>V | No |
ClinGen gnomAD |
|
|
CA361488227 rs1326467201 |
285 | L>F | No |
ClinGen gnomAD |
|
|
rs1554146581 CA361488221 |
285 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 285 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3432953 rs754483296 |
295 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1295380909 CA361488290 |
295 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1061502 rs1307308858 CA361488324 |
300 | V>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 304 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 304 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361138065 rs1281544722 |
307 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 310 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351664168 CA361138090 |
310 | I>T | No |
ClinGen gnomAD |
|
|
CA361138115 rs1208189109 |
312 | G>A | No |
ClinGen gnomAD |
|
|
CA361138150 rs1266257010 |
315 | H>Y | No |
ClinGen gnomAD |
|
|
rs1214824686 CA361138163 |
316 | S>G | No |
ClinGen gnomAD |
|
|
CA128231180 rs978783651 |
316 | S>I | No |
ClinGen Ensembl |
|
|
CA3432970 rs762130248 |
317 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1274400535 CA361138179 |
317 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361138182 rs1431850544 |
318 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs770301149 CA3432971 |
319 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA3432973 rs773617455 CA361138207 |
320 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
rs1364085173 CA361138214 |
321 | L>F | No |
ClinGen gnomAD |
|
|
CA361138421 rs1254554539 |
327 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 328 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 329 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 330 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163574043 CA361138519 |
333 | N>K | No |
ClinGen gnomAD |
|
|
rs1347183432 CA361138515 |
333 | N>S | No |
ClinGen TOPMed |
|
|
rs748501312 CA3432991 |
334 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA128231942 rs941271929 |
335 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA361138552 rs1554147684 |
336 | G>V | No |
ClinGen Ensembl |
|
|
rs1433465272 CA361138678 |
342 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 343 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361138810 rs1295660285 |
351 | P>L | No |
ClinGen TOPMed |
|
|
rs761367865 CA3433022 |
359 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1354451334 CA361138905 |
359 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 359 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318353930 CA361138966 |
364 | H>P | No |
ClinGen gnomAD |
|
|
CA361138968 rs1318353930 |
364 | H>R | No |
ClinGen gnomAD |
|
|
CA361138963 rs1561938220 |
364 | H>Y | No |
ClinGen Ensembl |
|
|
CA3433023 rs746889029 |
368 | P>T | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 376 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361139456 rs1307085297 |
377 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1269816989 CA361139082 |
377 | G>R | No |
ClinGen TOPMed |
|
|
CA3433060 rs201075828 |
378 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361139566 rs1420307851 |
388 | H>N | No |
ClinGen TOPMed |
|
|
rs143840998 CA3433062 |
389 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226494987 CA361139596 |
390 | Q>E | No |
ClinGen gnomAD |
|
|
CA361139604 rs1274987345 |
390 | Q>H | No |
ClinGen gnomAD |
|
|
rs747566193 CA3433064 |
393 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361139639 rs1204160990 COSM162398 |
393 | R>T | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1482158829 CA361139645 |
394 | V>M | No |
ClinGen gnomAD |
|
|
CA3433096 rs762022808 |
402 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 407 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361139876 rs1434220226 |
407 | R>P | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361139960 rs1247608394 |
414 | Q>H | No |
ClinGen TOPMed |
|
|
CA361139999 rs1364548240 |
419 | V>I | No |
ClinGen TOPMed |
|
|
rs1436392805 CA361140022 |
421 | P>Q | No |
ClinGen TOPMed |
|
|
CA128233985 rs370556662 |
425 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3433100 rs766767917 |
427 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1554147988 CA361140086 |
427 | N>K | No |
ClinGen Ensembl |
|
|
rs751929498 CA3433101 |
428 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1554147993 CA361140112 |
430 | I>N | No |
ClinGen Ensembl |
|
|
CA361140161 rs1370156933 |
435 | N>S | No |
ClinGen TOPMed |
|
|
rs868815955 CA128234006 |
436 | E>* | No |
ClinGen Ensembl |
|
|
rs1351332657 CA361140694 |
439 | I>V | No |
ClinGen gnomAD |
|
|
rs993239880 CA128234940 |
441 | M>R | No |
ClinGen Ensembl |
|
|
CA361140729 rs1409293971 |
442 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA128234949 rs200301291 |
443 | T>A | No |
ClinGen 1000Genomes |
|
|
CA3433127 rs749957490 |
446 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA361140797 rs1246117151 |
448 | Q>R | No |
ClinGen gnomAD |
|
|
rs779612686 CA3433129 |
450 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs754837689 CA3433131 |
452 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3433133 rs748098389 |
456 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1184217603 CA361140883 |
456 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs748098389 CA361140876 |
456 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199624996 CA128234996 |
457 | T>I | No |
ClinGen 1000Genomes |
|
|
CA128234997 rs865920515 |
458 | P>Q | No |
ClinGen Ensembl |
|
|
CA128235006 rs371045547 |
462 | F>C | No |
ClinGen ESP TOPMed |
|
|
rs958933211 CA128235010 |
462 | F>L | No |
ClinGen Ensembl |
|
|
rs1168921142 CA361140959 |
465 | P>A | No |
ClinGen gnomAD |
|
|
rs775900944 CA3433141 |
475 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs896396054 CA128235293 |
480 | P>S | No |
ClinGen Ensembl |
|
|
rs1554148245 CA361141180 |
482 | G>E | No |
ClinGen Ensembl |
|
|
rs1561940344 CA361141188 |
483 | K>R | No |
ClinGen Ensembl |
|
|
CA361141206 rs1303040315 |
484 | P>L | No |
ClinGen gnomAD |
|
|
CA3433162 rs775808771 |
484 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1466225711 CA361141222 |
485 | D>E | No |
ClinGen gnomAD |
|
|
rs1253694869 CA361141219 |
485 | D>G | No |
ClinGen gnomAD |
|
|
rs1231907593 CA361141215 |
485 | D>Y | No |
ClinGen gnomAD |
|
|
CA361141225 rs1209324366 |
486 | Q>K | No |
ClinGen gnomAD |
|
|
rs1013548969 CA128235304 |
487 | K>R | No |
ClinGen gnomAD |
|
|
rs777025841 CA3433165 |
488 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA128235307 rs201613971 |
488 | F>L | No |
ClinGen 1000Genomes |
|
|
rs762462800 CA3433166 |
491 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3433167 rs765808157 |
492 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433933746 CA361141317 |
492 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA128235366 rs200584655 |
495 | G>R | No |
ClinGen 1000Genomes |
|
|
rs1321872002 COSM1671904 CA361141355 |
496 | R>C | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3433169 COSM1061506 rs368389424 |
496 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs752503295 CA361141372 |
498 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 498 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3433171 rs752503295 |
498 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 504 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128235404 rs867724657 |
504 | P>S | No |
ClinGen Ensembl |
|
|
rs998913077 CA128235417 |
507 | G>A | No |
ClinGen Ensembl |
|
|
CA3433174 rs753723614 |
509 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA361141512 rs1228461208 |
511 | S>C | No |
ClinGen gnomAD |
|
|
rs1228461208 CA361141511 |
511 | S>G | No |
ClinGen gnomAD |
|
|
CA361141529 rs1477825710 |
512 | A>V | No |
ClinGen TOPMed |
|
|
CA361141556 rs1326911147 |
515 | K>R | No |
ClinGen gnomAD |
|
|
CA128235420 rs868055761 |
516 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 522 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3433203 rs755290769 |
537 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 538 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 538 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 542 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429942612 CA361142712 |
545 | A>T | No |
ClinGen gnomAD |
|
|
CA361142733 rs1412628714 |
546 | M>V | No |
ClinGen TOPMed |
|
|
rs770163739 CA3433206 |
548 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA361142859 rs1378263007 |
553 | L>W | No |
ClinGen gnomAD |
|
|
rs773880646 CA3433208 |
554 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs773880646 CA3433207 |
554 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA128237522 rs886921447 |
558 | W>* | No |
ClinGen Ensembl |
|
|
rs1371772768 CA361142961 |
559 | F>L | No |
ClinGen TOPMed |
|
|
CA361143034 rs201037038 |
563 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 565 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561942224 CA361143055 |
565 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 571 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128237916 rs372800555 |
583 | G>V | No |
ClinGen ESP TOPMed |
|
|
CA361143479 rs1246005957 |
595 | R>G | No |
ClinGen gnomAD |
|
|
CA361143490 rs1356869612 |
596 | S>T | No |
ClinGen gnomAD |
|
|
rs779508126 CA3433254 |
597 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs781141878 CA128238082 |
598 | S>F | No |
ClinGen Ensembl |
|
|
CA361143543 rs1561942602 |
600 | D>E | No |
ClinGen Ensembl |
|
|
rs759869873 CA128238089 |
601 | G>D | No |
ClinGen Ensembl |
|
|
rs1458642967 CA361143555 |
602 | K>E | No |
ClinGen TOPMed |
|
|
rs568250848 CA128238100 |
602 | K>R | No |
ClinGen Ensembl |
|
|
CA361143589 rs1193499348 |
605 | P>R | No |
ClinGen gnomAD |
|
|
rs1480061565 CA361143586 |
605 | P>S | No |
ClinGen gnomAD |
|
|
CA128238120 rs948537324 |
614 | G>D | No |
ClinGen gnomAD |
|
|
CA361143685 rs1447539489 |
616 | Q>H | No |
ClinGen TOPMed |
|
|
CA361143695 rs1442882295 |
618 | T>P | No |
ClinGen gnomAD |
|
|
rs1389495986 CA361143704 |
619 | E>A | No |
ClinGen TOPMed |
|
|
CA361143701 rs1581256580 |
619 | E>K | No |
ClinGen Ensembl |
|
| rs1561942649 | 620 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361143712 rs1189204858 |
620 | S>G | No |
ClinGen TOPMed |
|
|
CA361143718 rs1182789387 |
620 | S>N | No |
ClinGen gnomAD |
|
|
CA3433259 rs376261978 |
621 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1190247069 CA361143733 |
623 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs762774985 CA361143744 |
624 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs762774985 CA3433261 |
624 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs987998193 CA128238164 |
626 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA361143771 rs1203455957 |
628 | E>A | No |
ClinGen TOPMed |
|
|
rs1561942710 CA361143776 |
629 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3433264 rs552776802 |
630 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767630525 CA3433265 |
631 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3433266 rs767630525 |
631 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3433268 rs764454434 |
632 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361143795 rs764454434 |
632 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361143810 rs1306497199 |
634 | D>Y | No |
ClinGen gnomAD |
|
|
CA3433271 rs765603068 |
639 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765603068 CA361143847 |
639 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202984640 CA361143865 |
641 | D>N | No |
ClinGen gnomAD |
|
|
CA361143887 rs1427567353 |
642 | D>E | No |
ClinGen TOPMed |
|
|
CA128238212 rs1009623443 |
642 | D>N | No |
ClinGen TOPMed |
|
|
rs553655919 CA361143902 |
643 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3433274 rs780740117 |
644 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1262763944 CA361143919 |
645 | E>G | No |
ClinGen gnomAD |
|
|
CA361143929 rs1428116880 |
646 | Q>E | No |
ClinGen gnomAD |
|
|
CA361143956 rs1581256817 |
648 | P>S | No |
ClinGen Ensembl |
|
|
CA361143985 rs1176347654 |
650 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749026971 CA361143980 |
650 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA361143993 rs1404536126 |
651 | L>V | No |
ClinGen gnomAD |
|
|
rs774081320 CA361144027 |
653 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1375377614 CA361144046 |
655 | E>A | No |
ClinGen TOPMed |
|
|
CA361144103 rs1433339176 |
659 | L>V | No |
ClinGen TOPMed |
|
|
CA3433282 rs771956457 |
660 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA361144633 rs1465011481 |
661 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1482932698 CA361144684 |
665 | A>V | No |
ClinGen TOPMed |
|
|
CA3433284 rs760871542 |
666 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1261252930 CA361144688 |
666 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA361144731 rs1209173962 |
671 | S>G | No |
ClinGen gnomAD |
|
|
rs1484746567 CA361144760 |
675 | V>L | No |
ClinGen gnomAD |
|
|
CA3433287 rs762198550 |
676 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs557085910 CA3433288 |
677 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1437528769 CA361144779 |
678 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs758915987 CA3433290 |
679 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1028483751 CA128238291 |
684 | L>S | No |
ClinGen Ensembl |
|
|
rs755642199 CA3433293 |
685 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA361144840 rs1318860923 |
687 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA361144841 rs1318860923 |
687 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748935143 CA3433295 |
688 | A>P | No |
ClinGen ExAC |
|
| TCGA novel | 688 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545912132 CA3433298 |
690 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361144860 rs1308430347 |
691 | G>R | No |
ClinGen TOPMed |
|
|
rs1393022465 CA361144873 |
693 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 693 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361144890 rs1360977600 |
695 | P>A | No |
ClinGen gnomAD |
|
|
CA128238330 rs994929466 |
703 | D>G | No |
ClinGen TOPMed |
|
|
rs772009947 CA3433299 |
705 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA361144964 rs1280780952 |
706 | A>T | No |
ClinGen gnomAD |
|
|
rs747024958 CA3433301 |
706 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361144973 rs1228960452 |
707 | S>L | No |
ClinGen gnomAD |
|
|
CA3433302 rs563901227 |
709 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs955621149 CA128238356 |
710 | A>G | No |
ClinGen Ensembl |
|
|
CA361144986 rs1314919388 |
710 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3433303 rs750375963 |
712 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 712 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361145011 rs1490569608 |
713 | K>T | No |
ClinGen gnomAD |
|
|
CA361145016 rs1221898775 |
714 | L>F | No |
ClinGen gnomAD |
|
|
rs1266905761 CA361145019 |
714 | L>P | No |
ClinGen gnomAD |
|
|
CA3433375 rs759928245 |
719 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772523205 CA3433376 |
719 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3433377 rs775877374 |
720 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1452903586 CA361146034 |
724 | D>N | No |
ClinGen TOPMed |
|
|
rs1235948155 CA361146040 |
724 | D>V | No |
ClinGen TOPMed |
|
|
rs1801868 CA128240888 |
725 | Q>* | No |
ClinGen gnomAD |
|
|
CA361146047 rs1801868 |
725 | Q>K | No |
ClinGen gnomAD |
|
|
CA128240891 rs755225726 |
728 | E>V | No |
ClinGen Ensembl |
|
|
rs762668138 CA361146110 |
730 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3433381 rs762668138 |
730 | A>V | Variant assessed as Somatic; 0.0004619 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754841741 CA3433384 |
732 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs571481331 CA128240938 |
733 | N>D | No |
ClinGen 1000Genomes |
|
|
CA3433386 rs752579537 |
733 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3433388 rs777695336 |
735 | I>L | No |
ClinGen ExAC |
|
|
CA361146228 rs201019485 |
740 | N>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA361146232 rs1204915381 |
740 | N>K | No |
ClinGen gnomAD |
|
|
rs201019485 CA128240952 |
740 | N>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1581261710 CA361146237 |
741 | T>A | No |
ClinGen Ensembl |
|
|
rs779133284 CA3433391 |
742 | E>K | No |
ClinGen ExAC |
|
|
rs1222636318 CA361146263 |
743 | P>R | No |
ClinGen gnomAD |
|
|
CA361146272 rs1479141224 |
744 | G>D | No |
ClinGen gnomAD |
|
|
rs769251601 CA3433396 COSM168400 |
747 | S>Y | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA128241004 rs886851076 |
748 | S>C | No |
ClinGen TOPMed |
|
|
CA3433399 rs373216736 |
750 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361146335 rs1383132116 |
750 | N>S | No |
ClinGen gnomAD |
|
|
CA3433400 rs774158046 |
751 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759337639 CA3433401 |
752 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs754953289 CA3433402 |
753 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA361146379 rs1336859598 |
754 | P>A | No |
ClinGen gnomAD |
|
|
rs1402705527 CA361146386 |
754 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA361146381 rs1336859598 |
754 | P>S | No |
ClinGen gnomAD |
|
|
CA361146390 rs1400308419 |
755 | N>D | No |
ClinGen Ensembl |
|
|
rs144637575 CA3433404 |
755 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3433405 rs764124041 |
757 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs757346695 CA361146435 |
758 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757346695 CA3433408 |
758 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377978001 CA361146439 |
759 | S>G | No |
ClinGen TOPMed |
|
|
CA3433412 rs148487997 |
762 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128241127 rs978376573 |
763 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 764 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3433413 rs769000865 |
765 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs200320584 CA128241143 |
765 | Q>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs777216739 CA3433414 |
766 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA3433416 rs748749843 |
767 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361146528 rs1169701913 |
767 | D>N | No |
ClinGen gnomAD |
|
|
CA361146548 rs1561945049 |
769 | N>I | No |
ClinGen Ensembl |
|
|
CA3433418 rs759243817 |
772 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs531716338 CA3433419 |
773 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531716338 CA128241171 |
773 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356803915 CA361146579 |
774 | T>A | No |
ClinGen gnomAD |
|
|
rs763884623 CA3433422 |
775 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3433423 rs370051410 |
776 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 777 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278385135 CA361146614 |
779 | Y>C | No |
ClinGen gnomAD |
|
|
rs1194022580 CA361146643 |
783 | P>L | No |
ClinGen gnomAD |
|
|
CA361146661 rs1561945119 |
786 | P>A | No |
ClinGen Ensembl |
|
|
CA361146685 rs1422253769 |
790 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs766453846 CA3433447 |
792 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361146740 rs1176282949 |
794 | Y>C | No |
ClinGen gnomAD |
|
|
CA361146734 rs1213825852 |
794 | Y>H | No |
ClinGen TOPMed |
|
|
rs942229189 CA128241713 |
795 | V>M | No |
ClinGen TOPMed |
|
|
CA361146758 rs1404383484 |
796 | I>V | No |
ClinGen gnomAD |
|
|
rs751811718 CA3433448 |
797 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs781679269 CA3433450 |
798 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753153421 CA3433451 |
807 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs756651076 CA3433452 |
809 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs916209755 CA128241732 |
810 | Y>C | No |
ClinGen Ensembl |
|
|
CA361146976 rs1318506665 |
813 | E>K | No |
ClinGen gnomAD |
|
|
rs538879858 CA3433455 |
814 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361147017 rs1485650250 |
816 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs879634957 CA128241767 |
825 | P>A | No |
ClinGen gnomAD |
|
|
rs879634957 CA361147126 |
825 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 828 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3433458 rs746663724 |
829 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA128247013 rs986346640 |
836 | K>* | No |
ClinGen TOPMed |
|
|
rs986346640 CA361147469 |
836 | K>E | No |
ClinGen TOPMed |
|
|
rs912142064 CA128247014 |
836 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361147486 rs1355193293 |
838 | A>V | No |
ClinGen TOPMed |
|
|
rs781050726 CA361147504 |
841 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287853622 CA361147505 |
841 | R>H | No |
ClinGen gnomAD |
|
|
CA361147529 rs1456767545 COSM1310584 |
844 | K>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3433490 rs774450220 |
845 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919036863 CA128247031 |
847 | T>A | No |
ClinGen TOPMed |
1 associated diseases with P43243
[MIM: 606070]: Amyotrophic lateral sclerosis 21 (ALS21)
A neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia. {ECO:0000269|PubMed:19344878, ECO:0000269|PubMed:24686783, ECO:0000269|PubMed:25771394, ECO:0000269|PubMed:26199109}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia. {ECO:0000269|PubMed:19344878, ECO:0000269|PubMed:24686783, ECO:0000269|PubMed:25771394, ECO:0000269|PubMed:26199109}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 regional properties for P43243
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 398 - 473 | IPR000504-1 |
| domain | RNA recognition motif domain | 496 - 571 | IPR000504-2 |
| domain | Matrin/U1-C, C2H2-type zinc finger | 801 - 832 | IPR000690 |
| domain | Matrin/U1-C-like, C2H2-type zinc finger | 288 - 322 | IPR003604-1 |
| domain | Matrin/U1-C-like, C2H2-type zinc finger | 798 - 833 | IPR003604-2 |
| domain | Matrin-3, RNA recognition motif 1 | 398 - 473 | IPR034928 |
| domain | Matrin-3, RNA recognition motif 2 | 496 - 575 | IPR034930 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| miRNA binding | Binding to a microRNA, a 21-23 nucleotide RNA that is processed from a stem-loop RNA precursor (pre-miRNA) that is encoded within plant and animal genomes. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| structural molecule activity | The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell. |
| zinc ion binding | Binding to a zinc ion (Zn). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of innate immune response | Any process that initiates an innate immune response. Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. Examples of this process include activation of the hypersensitive response of Arabidopsis thaliana and activation of any NOD or TLR signaling pathway in vertebrate species. |
| blastocyst formation | The initial formation of a blastocyst from a solid ball of cells known as a morula. |
| heart valve development | The progression of a heart valve over time, from its formation to the mature structure. A heart valve is a structure that restricts the flow of blood to different regions of the heart and forms from an endocardial cushion. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| post-transcriptional regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. |
| ventricular septum development | The progression of the ventricular septum over time from its formation to the mature structure. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8K310 | Matr3 | Matrin-3 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSKSFQQSSL | SRDSQGHGRD | LSAAGIGLLA | AATQSLSMPA | SLGRMNQGTA | RLASLMNLGM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSSLNQQGAH | SALSSASTSS | HNLQSIFNIG | SRGPLPLSSQ | HRGDADQASN | ILASFGLSAR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DLDELSRYPE | DKITPENLPQ | ILLQLKRRRT | EEGPTLSYGR | DGRSATREPP | YRVPRDDWEE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KRHFRRDSFD | DRGPSLNPVL | DYDHGSRSQE | SGYYDRMDYE | DDRLRDGERC | RDDSFFGETS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HNYHKFDSEY | ERMGRGPGPL | QERSLFEKKR | GAPPSSNIED | FHGLLPKGYP | HLCSICDLPV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HSNKEWSQHI | NGASHSRRCQ | LLLEIYPEWN | PDNDTGHTMG | DPFMLQQSTN | PAPGILGPPP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PSFHLGGPAV | GPRGNLGAGN | GNLQGPRHMQ | KGRVETSRVV | HIMDFQRGKN | LRYQLLQLVE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PFGVISNHLI | LNKINEAFIE | MATTEDAQAA | VDYYTTTPAL | VFGKPVRVHL | SQKYKRIKKP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EGKPDQKFDQ | KQELGRVIHL | SNLPHSGYSD | SAVLKLAEPY | GKIKNYILMR | MKSQAFIEME |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TREDAMAMVD | HCLKKALWFQ | GRCVKVDLSE | KYKKLVLRIP | NRGIDLLKKD | KSRKRSYSPD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GKESPSDKKS | KTDGSQKTES | STEGKEQEEK | SGEDGEKDTK | DDQTEQEPNM | LLESEDELLV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DEEEAAALLE | SGSSVGDETD | LANLGDVASD | GKKEPSDKAV | KKDGSASAAA | KKKLKKVDKI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EELDQENEAA | LENGIKNEEN | TEPGAESSEN | ADDPNKDTSE | NADGQSDENK | DDYTIPDEYR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| IGPYQPNVPV | GIDYVIPKTG | FYCKLCSLFY | TNEEVAKNTH | CSSLPHYQKL | KKFLNKLAEE |
| RRQKKET |