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.K893R

c.2678A>G

Surrounding Variants

3 papers

NM_007294.4

p.K893N

c.2679G>T

10 papers

NM_007294.4

p.K893fs

c.2677_2678fs

5 papers

NM_007294.4

p.K893insFs

c.2678dupA

3 papers

NM_007294.4

p.K893N

c.2679G>C

1 paper

NM_007294.4

p.K893delFs

c.2678delT

14 papers

NM_007294.4

p.K893fs

c.2677_2678fs

2 papers

NM_007294.4

p.L892_K893delFs

c.2675_2678del4

2 papers

NM_007294.4

p.K893Q

c.2677A>C

1 paper

NM_007294.4

p.K894*

c.2680A>T

1 paper

NM_007294.4

p.L892L

c.2676A>G

1 paper

NM_007294.4

p.K894Q

c.2680A>C

1 paper

NM_007294.4

p.L892insFs

c.2674_2675insT