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

3 papers

NM_007294.4

p.V740V

c.2220G>T

Surrounding Variants

5 papers

NM_007294.4

p.V740fs

c.2218_2219fs

1 paper

NM_007294.4

p.V740V

c.2220G>A

1 paper

NM_007294.4

p.V738_K739del2

c.2212_2216del6

1 paper

NM_007294.4

p.S741ins4

c.2221_2222ins12

4 papers

NM_007294.4

p.S741P

c.2221T>C

1 paper

NM_007294.4

p.E732_V740delFs

c.2195_2220del26

1 paper

NM_007294.4

p.S741fs

c.2221_2222fs

7 papers

NM_007294.4

p.V740L

c.2218G>T

1 paper

NM_007294.4

p.V740_S741insAG

c.2218_2222ins6

18 papers

NM_007294.4

p.K739insFs

c.2217dupA

7 papers

NM_007294.4

p.V740L

c.2218G>C

2 papers

NM_007294.4

p.V740M

c.2218G>A