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

16 papers

NM_007294.4

p.S1383*

c.4148C>A

Surrounding Variants

7 papers

NM_007294.4

p.S1383L

c.4148C>T

20 papers

NM_007294.4

p.S1383*

c.4148C>G

1 paper

NM_007294.4

p.S1370_S1383del0

c.4110_4148del39

5 papers

NM_007294.4

p.G1384W

c.4150G>T

1 paper

NM_007294.4

p.G1384ins11

c.4150_4151ins33

1 paper

NM_007294.4

p.G1384R

c.4150G>C

1 paper

NM_007294.4

p.G1384R

c.4150G>A

2 papers

NM_007294.4

p.S1383delFs

c.4148_4149delTG

4 papers

NM_007294.4

p.C1382*

c.4146C>A

1 paper

NM_007294.4

p.G1384V

c.4151G>T

5 papers

NM_007294.4

p.C1382S

c.4145G>C

1 paper

NM_007294.4

p.G1384A

c.4151G>C