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

1 paper

NM_007294.4

p.P634_N635del2

c.1900_1904del6

Surrounding Variants

1 paper

NM_007294.4

p.C636insFs

c.1906_1907insC

1 paper

NM_007294.4

p.C636fs

c.1906_1907fs

2 papers

NM_007294.4

p.N635K

c.1905T>G

2 papers

NM_007294.4

p.N635N

c.1905T>C

2 papers

NM_007294.4

p.N635K

c.1905T>A

1 paper

NM_007294.4

p.S632_N635delFs

c.1895_1904del10

1 paper

NM_007294.4

p.C636S

c.1907G>C

5 papers

NM_007294.4

p.C636Y

c.1907G>A

3 papers

NM_007294.4

p.C636delFs

c.1906delA

2 papers

NM_007294.4

p.C636C

c.1908T>C

3 papers

NM_007294.4

p.N635S

c.1904A>G

1 paper

NM_007294.4

p.T637S

c.1909A>T