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.K1727Q

c.5179A>C

Surrounding Variants

19 papers

NM_007294.4

p.K1727*

c.5179A>T

NM_007300.4

p.K1748*

c.5242A>T

4 papers

NM_007294.4

p.K1727E

c.5179A>G

5 papers

NM_007294.4

p.R1726delFs

c.5177_5178delTC

1 paper

NM_007294.4

p.K1727fs

c.5179_5180fs

3 papers

NM_007294.4

p.K1727I

c.5180A>T

3 papers

NM_007294.4

p.R1726S

c.5178A>T

5 papers

NM_007294.4

p.K1727R

c.5180A>G

3 papers

NM_007294.4

p.K1727T

c.5180A>C

3 papers

NM_007294.4

p.R1726S

c.5178A>C

12 papers

NM_007294.4

p.R1726fs

c.5176_5177fs

1 paper

NM_007294.4

p.R1726delFs

c.5177delC

13 papers

NM_007294.4

p.R1726I

c.5177G>T