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

2 papers

NM_007294.4

p.G754delFs

c.2262delT

Surrounding Variants

18 papers

NM_007294.4

p.E755*

c.2263G>T

3 papers

NM_007294.4

p.E755K

c.2263G>A

1 paper

NM_007294.4

p.S753_G754delFs

c.2259_2262del4

1 paper

NM_007294.4

p.S753_G754del2

c.2257_2261del6

1 paper

NM_007294.4

p.E755fs

c.2263_2264fs

1 paper

NM_007294.4

p.E755G

c.2264A>G

1 paper

NM_007294.4

p.G754G

c.2262A>G

1 paper

NM_007294.4

p.E755A

c.2264A>C

3 papers

NM_007294.4

p.E755delFs

c.2263delC

2 papers

NM_007294.4

p.G754E

c.2261G>A

4 papers

NM_007294.4

p.E755fs

c.2263_2264fs

2 papers

NM_007294.4

p.G754*

c.2260G>T