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

12 papers

NM_007294.4

p.K683delFs

c.2048delT

Surrounding Variants

1 paper

NM_007294.4

p.K683fs

c.2047_2048fs

1 paper

NM_007294.4

p.K683K

c.2049G>A

1 paper

NM_007294.4

p.N682_K683delFs

c.2045_2048del4

13 papers

NM_007294.4

p.P684S

c.2050C>T

1 paper

NM_007294.4

p.P684A

c.2050C>G

2 papers

NM_007294.4

p.P684T

c.2050C>A

2 papers

NM_007294.4

p.K683R

c.2048A>G

1 paper

NM_007294.4

p.K683T

c.2048A>C

1 paper

NM_007294.4

p.N682delFs

c.2045_2046delGT

4 papers

NM_007294.4

p.K683fs

c.2047_2048fs

1 paper

NM_007294.4

p.P684Q

c.2051C>A

1 paper

NM_007294.4

p.K683_P684delFs

c.2047_2050del4