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

8 papers

NM_007294.4

p.L413delFs

c.1238delA

Surrounding Variants

1 paper

NM_007294.4

p.L413F

c.1239G>T

3 papers

NM_007294.4

p.L413fs

c.1237_1238fs

1 paper

NM_007294.4

p.L413F

c.1239G>C

1 paper

NM_007294.4

p.L413L

c.1239G>A

1 paper

NM_007294.4

p.V412_L413delFs

c.1235_1238del4

1 paper

NM_007294.4

p.L413W

c.1238T>G

1 paper

NM_007294.4

p.D414N

c.1240G>A

1 paper

NM_007294.4

p.D411_D414Fs

c.1232_1240delinsCAFs

2 papers

NM_007294.4

p.D414fs

c.1240_1241fs

1 paper

NM_007294.4

p.V412insFs

c.1236dupA

2 papers

NM_007294.4

p.L413V

c.1237T>G

2 papers

NM_007294.4

p.L413L

c.1237T>C