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

3 papers

NM_007294.4

p.T900I

c.2699C>T

Surrounding Variants

1 paper

NM_007294.4

p.T900S

c.2698A>T

1 paper

NM_007294.4

p.T900A

c.2698A>G

2 papers

NM_007294.4

p.P897_V899delFs

c.2690_2697del8

4 papers

NM_007294.4

p.F901fs

c.2701_2702fs

2 papers

NM_007294.4

p.V899V

c.2697C>G

2 papers

NM_007294.4

p.V899fs

c.2695_2696fs

1 paper

NM_007294.4

p.V899V

c.2697C>A

3 papers

NM_007294.4

p.F901S

c.2702T>C

2 papers

NM_007294.4

p.V899delFs

c.2695delC

5 papers

NM_007294.4

p.F901fs

c.2701_2702fs

1 paper

NM_007294.4

p.F901F

c.2703T>C

1 paper

NM_007294.4

p.F901L

c.2703T>A