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.E1541_S1542del2

c.4621_4625del6

Surrounding Variants

1 paper

NM_007294.4

p.G1543A

c.4628G>C

2 papers

NM_007294.4

p.G1543W

c.4627G>T

1 paper

NM_007294.4

p.G1543R

c.4627G>C

1 paper

NM_007294.4

p.G1543G

c.4629G>A

1 paper

NM_007294.4

p.G1543R

c.4627G>A

14 papers

NM_007294.4

p.S1542delFs

c.4625_4626delAG

1 paper

NM_007294.4

p.S1542_G1543delFs

c.4624_4628del5

1 paper

NM_007294.4

p.S1542fs

c.4624_4625fs

1 paper

NM_007294.4

p.P1544A

c.4630C>G

10 papers

NM_007294.4

p.P1544L

c.4631C>T

19 papers

NM_007294.4

p.S1542C

c.4625C>G

8 papers

NM_007294.4

p.S1542A

c.4624T>G