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

2 papers

NM_007294.4

p.A1814G

c.5441C>G

Surrounding Variants

4 papers

NM_007294.4

p.A1814V

c.5441C>T

7 papers

NM_007294.4

p.A1814insFs

c.5440dupG

2 papers

NM_007294.4

p.A1814D

c.5441C>A

2 papers

NM_007294.4

p.A1814delFs

c.5440delC

1 paper

NM_007294.4

p.A1814S

c.5440G>T

1 paper

NM_007294.4

p.D1813insFs

c.5439dupT

1 paper

NM_007294.4

p.A1814_W1815insA

c.5440_5444ins3

1 paper

NM_007294.4

p.A1814P

c.5440G>C

1 paper

NM_007294.4

p.A1814T

c.5440G>A

4 papers

NM_007294.4

p.D1813delFs

c.5439delA

1 paper

NM_007294.4

p.P1812_D1813del2

c.5434_5438del6

2 papers

NM_007294.4

p.A1814fs

c.5440_5441fs