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

73 papers

NM_007294.4

p.T1685I

c.5054C>T

Surrounding Variants

9 papers

NM_007294.4

p.T1685S

c.5054C>G

5 papers

NM_007294.4

p.T1685N

c.5054C>A

1 paper

NM_007294.4

p.T1685fs

c.5053_5054fs

7 papers

NM_007294.4

p.T1685S

c.5053A>T

54 papers

NM_007294.4

p.T1685A

c.5053A>G

5 papers

NM_007294.4

p.T1685P

c.5053A>C

1 paper

NM_007294.4

p.T1685_H1686insTA

c.5053_5057ins6

1 paper

NM_007294.4

p.T1685insFs

c.5053_5054insTA

1 paper

NM_007294.4

p.T1684fs

c.5050_5051fs

1 paper

NM_007294.4

p.T1684_T1685insFs

c.5052_5053insAA

1 paper

NM_007294.4

p.T1684T

c.5052T>A

2 papers

NM_007294.4

p.T1684delFs

c.5051delG