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.S1041L

c.3122C>T

Surrounding Variants

19 papers

NM_007294.4

p.S1041*

c.3122C>G

18 papers

NM_007294.4

p.S1041*

c.3122C>A

7 papers

NM_007294.4

p.A1039_S1040del2

c.3115_3119del6

1 paper

NM_007294.4

p.S1042G

c.3124A>G

2 papers

NM_007294.4

p.S1042R

c.3124A>C

5 papers

NM_007294.4

p.S1040T

c.3119G>C

215 papers

NM_007294.4

p.S1040N

c.3119G>A

1 paper

NM_007294.4

p.S1042N

c.3125G>A

5 papers

NM_007294.4

p.S1042delFs

c.3124delT

5 papers

NM_007294.4

p.S1040delFs

c.3118delT

1 paper

NM_007294.4

p.K1037_S1041del5

c.3109_3122del15

1 paper

NM_007294.4

p.S1042R

c.3126C>G