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.G1232Fs

c.3694_3695delinsCFs

Surrounding Variants

2 papers

NM_007294.4

p.G1232insFs

c.3695_3696insT

2 papers

NM_007294.4

p.G1232D

c.3695G>A

4 papers

NM_007294.4

p.G1232fs

c.3694_3695fs

4 papers

NM_007294.4

p.G1232insFs

c.3694_3695insT

5 papers

NM_007294.4

p.G1232insFs

c.3694_3695insAA

1 paper

NM_007294.4

p.F1231delFs

c.3691_3692delAA

10 papers

NM_007294.4

p.F1231L

c.3693T>G

1 paper

NM_007294.4

p.F1231F

c.3693T>C

10 papers

NM_007294.4

p.F1231L

c.3693T>A

1 paper

NM_007294.4

p.K1233E

c.3697A>G

1 paper

NM_007294.4

p.K1233_V1234insA

c.3697_3701ins3

1 paper

NM_007294.4

p.F1231S

c.3692T>C