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.E1345G

c.4034A>G

Surrounding Variants

1 paper

NM_007294.4

p.E1345V

c.4034A>T

4 papers

NM_007294.4

p.E1345*

c.4033G>T

1 paper

NM_007294.4

p.E1345_E1346insGG

c.4033_4037ins6

2 papers

NM_007294.4

p.E1345K

c.4033G>A

2 papers

NM_007294.4

p.E1345D

c.4035A>T

1 paper

NM_007294.4

p.E1345D

c.4035A>C

6 papers

NM_007294.4

p.E1345fs

c.4033_4034fs

1 paper

NM_007294.4

p.D1343del1

c.4027_4028delATC

5 papers

NM_007294.4

p.D1344_E1345Fs

c.4030_4035delinsCFs

1 paper

NM_007294.4

p.D1344delFs

c.4031delT

2 papers

NM_007294.4

p.E1346*

c.4036G>T

36 papers

NM_007294.4

p.E1346K

c.4036G>A