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.V1247_T1249Fs

c.3740_3745delinsAAFs

Surrounding Variants

1 paper

NM_007294.4

p.A1248_T1249insFs

c.3744_3745insA

1 paper

NM_007294.4

p.A1248A

c.3744T>G

1 paper

NM_007294.4

p.H1244_A1248delFs

c.3731_3743del13

7 papers

NM_007294.4

p.A1248V

c.3743C>T

1 paper

NM_007294.4

p.A1248G

c.3743C>G

1 paper

NM_007294.4

p.A1248insFs

c.3743_3744insA

9 papers

NM_007294.4

p.T1249S

c.3745A>T

1 paper

NM_007294.4

p.T1249A

c.3745A>G

3 papers

NM_007294.4

p.T1249P

c.3745A>C

12 papers

NM_007294.4

p.A1248delFs

c.3744delA

1 paper

NM_007294.4

p.A1248fs

c.3742_3743fs

1 paper

NM_007294.4

p.A1248S

c.3742G>T