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

5 papers

NM_007294.4

p.R136S

c.408A>T

Surrounding Variants

3 papers

NM_007294.4

p.R136S

c.408A>C

1 paper

NM_007294.4

p.R136fs

c.406_407fs

4 papers

NM_007294.4

p.R136delFs

c.407delC

1 paper

NM_007294.4

p.L137fs

c.409_410fs

3 papers

NM_007294.4

p.R136I

c.407G>T

3 papers

NM_007294.4

p.R136insFs

c.406dupA

1 paper

NM_007294.4

p.R136T

c.407G>C

6 papers

NM_007294.4

p.R136K

c.407G>A

11 papers

NM_007294.4

p.K135delFs

c.403delT

5 papers

NM_007294.4

p.L137F

c.409C>T

1 paper

NM_007294.4

p.L137V

c.409C>G

1 paper

NM_007294.4

p.L137I

c.409C>A