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.N682Y

c.2044A>T

Surrounding Variants

2 papers

NM_007294.4

p.N682D

c.2044A>G

13 papers

NM_007294.4

p.S681insFs

c.2043dupT

1 paper

NM_007294.4

p.N682_K683ins10

c.2044_2048ins30

1 paper

NM_007294.4

p.A678_S681del4

c.2032_2042del12

1 paper

NM_007294.4

p.G671_S681del11

c.2011_2042del33

2 papers

NM_007294.4

p.S681fs

c.2041_2042fs

2 papers

NM_007294.4

p.S681R

c.2043T>G

1 paper

NM_007294.4

p.S681R

c.2043T>A

1 paper

NM_007294.4

p.S681delFs

c.2042delC

1 paper

NM_007294.4

p.E673_S681delFs

c.2017_2041del25

3 papers

NM_007294.4

p.N682S

c.2045A>G

4 papers

NM_007294.4

p.S681I

c.2042G>T