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

9 papers

NM_007294.4

p.R1753S

c.5259A>C

Surrounding Variants

9 papers

NM_007294.4

p.R1753S

c.5259A>T

1 paper

NM_007294.4

p.R1753R

c.5259A>G

2 papers

NM_007294.4

p.R1753fs

c.5257_5258fs

24 papers

NM_007294.4

p.E1754*

c.5260G>T

6 papers

NM_007294.4

p.R1753I

c.5258G>T

3 papers

NM_007294.4

p.R1753insFs

c.5257dupA

27 papers

NM_007294.4

p.R1753T

c.5258G>C

8 papers

NM_007294.4

p.E1754Q

c.5260G>C

12 papers

NM_007294.4

p.R1753K

c.5258G>A

6 papers

NM_007294.4

p.E1754K

c.5260G>A

5 papers

NM_007294.4

p.R1753delFs

c.5259delT

3 papers

NM_007294.4

p.E1754fs

c.5260_5261fs