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.C305delFs

c.915delA

Surrounding Variants

1 paper

NM_007294.4

p.N306fs

c.916_917fs

1 paper

NM_007294.4

p.N306Y

c.916A>T

1 paper

NM_007294.4

p.N306D

c.916A>G

1 paper

NM_007294.4

p.N306_K307insA

c.916_920ins3

1 paper

NM_007294.4

p.C305W

c.915T>G

4 papers

NM_007294.4

p.C305*

c.915T>A

2 papers

NM_007294.4

p.N306S

c.917A>G

1 paper

NM_007294.4

p.N306insFs

c.917_918ins4

2 papers

NM_007294.4

p.N306insFs

c.917dupA

2 papers

NM_007294.4

p.N306N

c.918T>C

6 papers

NM_007294.4

p.C305F

c.914G>T

2 papers

NM_007294.4

p.C305S

c.914G>C