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.K800fs

c.2398_2399fs

Surrounding Variants

2 papers

NM_007294.4

p.K800*

c.2398A>T

36 papers

NM_007294.4

p.P798_N799del2

c.2392_2396del6

1 paper

NM_007294.4

p.N799fs

c.2395_2396fs

1 paper

NM_007294.4

p.N799insFs

c.2396_2397ins26

8 papers

NM_007294.4

p.N799K

c.2397T>G

10 papers

NM_007294.4

p.N799K

c.2397T>A

1 paper

NM_007294.4

p.N799delFs

c.2395delT

1 paper

NM_007294.4

p.T796_N799del4

c.2386_2396del12

2 papers

NM_007294.4

p.N799S

c.2396A>G

2 papers

NM_007294.4

p.C801R

c.2401T>C

1 paper

NM_007294.4

p.C801S

c.2401T>A

1 paper

NM_007294.4

p.N799Y

c.2395A>T