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.E1644fs

c.4930_4931fs

Surrounding Variants

4 papers

NM_007294.4

p.E1644*

c.4930G>T

3 papers

NM_007294.4

p.E1644Q

c.4930G>C

4 papers

NM_007294.4

p.E1644K

c.4930G>A

2 papers

NM_007294.4

p.E1644V

c.4931A>T

29 papers

NM_007294.4

p.E1644G

c.4931A>G

3 papers

NM_007294.4

p.E1644A

c.4931A>C

4 papers

NM_007294.4

p.T1643I

c.4928C>T

3 papers

NM_007294.4

p.T1643R

c.4928C>G

3 papers

NM_007294.4

p.T1643K

c.4928C>A

3 papers

NM_007294.4

p.E1644D

c.4932A>T

3 papers

NM_007294.4

p.E1644D

c.4932A>C

2 papers

NM_007294.4

p.E1644delFs

c.4930_4931delTC