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

7 papers

NM_007294.4

p.H41D

c.121C>G

Surrounding Variants

26 papers

NM_007294.4

p.H41Y

c.121C>T

15 papers

NM_007294.4

p.H41N

c.121C>A

1 paper

NM_007294.4

p.C39_H41Fs

c.117_121delinsGAGFs

2 papers

NM_007294.4

p.T37_D40del4

c.109_119del12

1 paper

NM_007294.4

p.E33_D40del8

c.97_119del24

1 paper

NM_007294.4

p.H41fs

c.121_122fs

3 papers

NM_007294.4

p.D40D

c.120C>T

7 papers

NM_007294.4

p.D40E

c.120C>G

1 paper

NM_007294.4

p.D40insFs

c.119_120insAT

8 papers

NM_007294.4

p.D40E

c.120C>A

16 papers

NM_007294.4

p.H41L

c.122A>T

59 papers

NM_007294.4

p.H41R

c.122A>G