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

4 papers

NM_007294.4

p.G1348delFs

c.4043delC

Surrounding Variants

7 papers

NM_007294.4

p.G1348fs

c.4042_4043fs

1 paper

NM_007294.4

p.G1348A

c.4043G>C

36 papers

NM_007294.4

p.R1347_G1348delFs

c.4041_4042delCT

4 papers

NM_007294.4

p.T1349fs

c.4045_4046fs

1 paper

NM_007297.4

p.T1302S

c.3904A>T

3 papers

NM_007294.4

p.T1349A

c.4045A>G

8 papers

NM_007294.4

p.T1349P

c.4045A>C

NM_007297.4

p.T1302P

c.3904A>C

1 paper

NM_007294.4

p.T1349insFs

c.4045_4046insTA

9 papers

NM_007294.4

p.G1348*

c.4042G>T

6 papers

NM_007294.4

p.E1346_R1347delFs

c.4038_4041del4

30 papers

NM_007294.4

p.T1349M

c.4046C>T

17 papers

NM_007294.4

p.T1349R

c.4046C>G