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

1 paper

NM_007294.4

p.E781V

c.2342A>T

Surrounding Variants

2 papers

NM_007294.4

p.E781G

c.2342A>G

3 papers

NM_007294.4

p.E781A

c.2342A>C

1 paper

NM_007294.4

p.E781insFs

c.2342_2343insCT

7 papers

NM_007294.4

p.E781*

c.2341G>T

1 paper

NM_007294.4

p.E781Q

c.2341G>C

2 papers

NM_007294.4

p.E781K

c.2341G>A

1 paper

NM_007294.4

p.E781D

c.2343A>T

4 papers

NM_007294.4

p.E781fs

c.2341_2342fs

4 papers

NM_007294.4

p.S782fs

c.2344_2345fs

2 papers

NM_007294.4

p.Q780H

c.2340G>T

1 paper

NM_007294.4

p.Q780fs

c.2338_2339fs

2 papers

NM_007294.4

p.Q780H

c.2340G>C