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.S1360S

c.4080C>T

Surrounding Variants

1 paper

NM_007294.4

p.S1360delFs

c.4079delC

1 paper

NM_007294.4

p.S1360I

c.4079G>T

3 papers

NM_007294.4

p.M1361fs

c.4081_4082fs

3 papers

NM_007294.4

p.S1360delFs

c.4078delT

18 papers

NM_007294.4

p.M1361L

c.4081A>T

6 papers

NM_007294.4

p.M1361V

c.4081A>G

20 papers

NM_007294.4

p.M1361L

c.4081A>C

3 papers

NM_007294.4

p.M1361insFs

c.4081_4082insA

3 papers

NM_007294.4

p.M1361T

c.4082T>C

1 paper

NM_007294.4

p.M1361delFs

c.4081delT

4 papers

NM_007294.4

p.S1360fs

c.4078_4079fs

6 papers

NM_007294.4

p.S1360G

c.4078A>G