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.S1212A

c.3634T>G

Surrounding Variants

3 papers

NM_007294.4

p.S1212P

c.3634T>C

1 paper

NM_007294.4

p.S1211delFs

c.3633delG

1 paper

NM_007294.4

p.G1201_S1211del11

c.3601_3632del33

1 paper

NM_007294.4

p.S1212L

c.3635C>T

5 papers

NM_007294.4

p.S1212*

c.3635C>G

5 papers

NM_007294.4

p.S1212*

c.3635C>A

2 papers

NM_007294.4

p.S1211_S1212delFs

c.3631_3634del4

2 papers

NM_007294.4

p.S1211F

c.3632C>T

4 papers

NM_007294.4

p.S1211C

c.3632C>G

5 papers

NM_007294.4

p.S1212S

c.3636A>G

1 paper

NM_007294.4

p.S1212fs

c.3634_3635fs

1 paper

NM_007294.4

p.S1211A

c.3631T>G