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

271 papers

NM_007294.4

p.R1699W

c.5095C>T

NM_007300.4

p.R1720W

c.5158C>T

Surrounding Variants

7 papers

NM_007294.4

p.R1699G

c.5095C>G

2 papers

NM_007294.4

p.R1699R

c.5095C>A

34 papers

NM_007294.4

p.R1699L

c.5096G>T

15 papers

NM_007294.4

p.R1699P

c.5096G>C

265 papers

NM_007294.4

p.R1699Q

c.5096G>A

NM_007300.4

p.R1720Q

c.5159G>A

1 paper

NM_007294.4

p.R1699delins

c.5095_5096delinsGA

4 papers

NM_007294.4

p.E1698D

c.5094A>T

4 papers

NM_007294.4

p.E1698D

c.5094A>C

1 paper

NM_007294.4

p.R1699R

c.5097G>C

8 papers

NM_007294.4

p.E1698_R1699delFs

c.5093_5096del4

3 papers

NM_007294.4

p.E1698V

c.5093A>T

4 papers

NM_007294.4

p.E1698G

c.5093A>G