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.H839Y

c.2515C>T

Surrounding Variants

8 papers

NM_007294.4

p.H839fs

c.2515_2516fs

3 papers

NM_007294.4

p.N838fs

c.2512_2513fs

3 papers

NM_007294.4

p.N838insFs

c.2513dupA

8 papers

NM_007294.4

p.N838delFs

c.2513delT

1 paper

NM_007294.4

p.V837_N838delFs

c.2509_2513del5

1 paper

NM_007294.4

p.H839R

c.2516A>G

8 papers

NM_007294.4

p.H839delFs

c.2515delG

1 paper

NM_007294.4

p.H839H

c.2517C>T

1 paper

NM_007294.4

p.H839Q

c.2517C>G

4 papers

NM_007294.4

p.H839fs

c.2515_2516fs

1 paper

NM_007294.4

p.H839insFs

c.2516dupA

1 paper

NM_007294.4

p.H839Q

c.2517C>A