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.H888P

c.2663A>C

Surrounding Variants

2 papers

NM_007294.4

p.H888L

c.2663A>T

1 paper

NM_007294.4

p.H888R

c.2663A>G

1 paper

NM_007294.4

p.H888delFs

c.2662delG

20 papers

NM_007294.4

p.H888Y

c.2662C>T

1 paper

NM_007294.4

p.H888H

c.2664C>T

1 paper

NM_007294.4

p.H888_S889insFs

c.2664_2665insA

2 papers

NM_007294.4

p.H888delFs

c.2663delT

1 paper

NM_007294.4

p.S889P

c.2665T>C

1 paper

NM_007294.4

p.S889fs

c.2665_2666fs

20 papers

NM_007294.4

p.S889F

c.2666C>T

5 papers

NM_007294.4

p.S889C

c.2666C>G

1 paper

NM_007294.4

p.S889insFs

c.2665dupT