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.H839insFs

c.2516dupA

Surrounding Variants

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.H839Q

c.2517C>A

8 papers

NM_007294.4

p.S840C

c.2518A>T

4 papers

NM_007294.4

p.S840G

c.2518A>G

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.S840insFs

c.2519_2520insC

2 papers

NM_007294.4

p.S840N

c.2519G>A

7 papers

NM_007294.4

p.H839_S840delFs

c.2517_2518delTG

1 paper

NM_007294.4

p.H839Y

c.2515C>T