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

118 papers

NM_007294.4

p.L1795_S1796insFs

c.5385_5386insC

Surrounding Variants

12 papers

NM_007294.4

p.L1795insFs

c.5383_5384insC

5 papers

NM_007294.4

p.S1796insFs

c.5386_5387insC

2 papers

NM_007294.4

p.S1796A

c.5386T>G

2 papers

NM_007294.4

p.L1795R

c.5384T>G

2 papers

NM_007294.4

p.S1796P

c.5386T>C

2 papers

NM_007294.4

p.L1795P

c.5384T>C

2 papers

NM_007294.4

p.S1796T

c.5386T>A

2 papers

NM_007294.4

p.L1795H

c.5384T>A

2 papers

NM_007294.4

p.S1790_L1795delFs

c.5369_5385del17

3 papers

NM_007294.4

p.S1796fs

c.5386_5387fs

1 paper

NM_007294.4

p.L1795fs

c.5383_5384fs

5 papers

NM_007294.4

p.S1796L

c.5387C>T