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.R1744delFs

c.5230delT

Surrounding Variants

4 papers

NM_007294.4

p.R1744I

c.5231G>T

3 papers

NM_007294.4

p.R1744T

c.5231G>C

5 papers

NM_007294.4

p.R1744K

c.5231G>A

6 papers

NM_007294.4

p.G1743_R1744delFs

c.5229_5230delTT

3 papers

NM_007294.4

p.R1744S

c.5232A>T

2 papers

NM_007294.4

p.R1744*

c.5230A>T

2 papers

NM_007294.4

p.R1744G

c.5230A>G

3 papers

NM_007294.4

p.R1744S

c.5232A>C

1 paper

NM_007294.4

p.R1744fs

c.5230_5231fs

5 papers

NM_007294.4

p.R1744delFs

c.5231delC

1 paper

NM_007294.4

p.R1744delins

c.5230_5232delinsGAT

5 papers

NM_007294.4

p.R1744fs

c.5230_5231fs