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.N569delFs

c.1706delT

Surrounding Variants

1 paper

NM_007294.4

p.N569N

c.1707C>T

1 paper

NM_007294.4

p.N567_P568del2

c.1699_1703del6

5 papers

NM_007294.4

p.P570S

c.1708C>T

1 paper

NM_007294.4

p.P570T

c.1708C>A

2 papers

NM_007294.4

p.N569delFs

c.1706_1707delGT

2 papers

NM_007294.4

p.N569del1

c.1705_1706delGTT

1 paper

NM_007294.4

p.K566_N569del4

c.1696_1706del12

3 papers

NM_007294.4

p.N569I

c.1706A>T

1 paper

NM_007294.4

p.N569S

c.1706A>G

1 paper

NM_007294.4

p.P570fs

c.1708_1709fs

5 papers

NM_007294.4

p.P570Q

c.1709C>A

1 paper

NM_007294.4

p.N569Y

c.1705A>T