Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_007294.4

p.N1002D

c.3004A>G

Surrounding Variants

5 papers

NM_007294.4

p.N1002fs

c.3004_3005fs

4 papers

NM_007294.4

p.E1000_E1001del0

c.2998_3003del6

2 papers

NM_007294.4

p.N1002I

c.3005A>T

2 papers

NM_007294.4

p.N1002S

c.3005A>G

1 paper

NM_007294.4

p.E1001E

c.3003A>G

1 paper

NM_007294.4

p.E1001fs

c.3001_3002fs

1 paper

NM_007294.4

p.F989_E1001delFs

c.2965_3002del38

5 papers

NM_007294.4

p.N1002fs

c.3004_3005fs

19 papers

NM_007294.4

p.N1002delFs

c.3005delT

1 paper

NM_007294.4

p.E1001G

c.3002A>G

1 paper

NM_007294.4

p.F1003L

c.3007T>C

10 papers

NM_007294.4

p.E1001*

c.3001G>T