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

37 papers

NM_007294.4

p.W1837C

c.5511G>T

Surrounding Variants

1 paper

NM_007294.4

p.W1837fs

c.5509_5510fs

36 papers

NM_007294.4

p.W1837C

c.5511G>C

29 papers

NM_007294.4

p.W1837*

c.5511G>A

2 papers

NM_007294.4

p.W1837delFs

c.5509_5510delCA

8 papers

NM_007294.4

p.V1838L

c.5512G>T

4 papers

NM_007294.4

p.W1837L

c.5510G>T

7 papers

NM_007294.4

p.V1838L

c.5512G>C

7 papers

NM_007294.4

p.W1837S

c.5510G>C

31 papers

NM_007294.4

p.W1837*

c.5510G>A

6 papers

NM_007294.4

p.V1838M

c.5512G>A

1 paper

NM_007294.4

p.W1837delins

c.5509_5510delinsGA

6 papers

NM_007294.4

p.V1838fs

c.5512_5513fs