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

17 papers

NM_007294.4

p.S153R

c.457A>C

Surrounding Variants

7 papers

NM_007294.4

p.S153fs

c.457_458fs

3 papers

NM_007294.4

p.S153C

c.457A>T

7 papers

NM_007294.4

p.S153G

c.457A>G

4 papers

NM_007294.4

p.S153ins7

c.457_458ins21

1 paper

NM_007294.4

p.L152delFs

c.456delG

1 paper

NM_007294.4

p.S151_L152delFs

c.453_454delGA

3 papers

NM_007294.4

p.S153insFs

c.457dupA

1 paper

NM_007294.4

p.S153N

c.458G>A

13 papers

NM_007294.4

p.L152_S153delFs

c.456_457delTG

2 papers

NM_007294.4

p.L152fs

c.454_455fs

1 paper

NM_007294.4

p.L152L

c.456C>A

1 paper

NM_007294.4

p.L152delFs

c.455delA