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

41 papers

NM_007294.4

p.W1718S

c.5153G>C

Surrounding Variants

18 papers

NM_007294.4

p.W1718L

c.5153G>T

32 papers

NM_007294.4

p.W1718*

c.5153G>A

6 papers

NM_007294.4

p.W1718fs

c.5152_5153fs

8 papers

NM_007294.4

p.W1718G

c.5152T>G

9 papers

NM_007294.4

p.W1718R

c.5152T>C

9 papers

NM_007294.4

p.W1718R

c.5152T>A

53 papers

NM_007294.4

p.W1718C

c.5154G>T

16 papers

NM_007294.4

p.W1718Splc

c.5153-1G>T

48 papers

NM_007294.4

p.W1718C

c.5154G>C

16 papers

NM_007294.4

p.W1718Splc

c.5153-1G>C

46 papers

NM_007294.4

p.W1718Splc

c.5153-1G>A

NM_007300.4

p.W1739Splc

c.5216-1G>A

41 papers

NM_007294.4

p.W1718*

c.5154G>A