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.E1644D

c.4932A>C

Surrounding Variants

3 papers

NM_007294.4

p.E1644D

c.4932A>T

2 papers

NM_007294.4

p.E1644delFs

c.4930_4931delTC

9 papers

NM_007294.4

p.R1645fs

c.4933_4934fs

5 papers

NM_007294.4

p.R1645W

c.4933A>T

2 papers

NM_007294.4

p.E1644V

c.4931A>T

29 papers

NM_007294.4

p.E1644G

c.4931A>G

11 papers

NM_007294.4

p.R1645G

c.4933A>G

3 papers

NM_007294.4

p.E1644A

c.4931A>C

1 paper

NM_007294.4

p.R1645R

c.4933A>C

12 papers

NM_007294.4

p.R1645M

c.4934G>T

4 papers

NM_007294.4

p.E1644*

c.4930G>T

2 papers

NM_007294.4

p.R1645insFs

c.4933_4934insA