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

2 papers

NM_007294.4

p.Q240R

c.719A>G

Surrounding Variants

1 paper

NM_007294.4

p.Q240L

c.719A>T

1 paper

NM_007294.4

p.H239_Q240delFs

c.717_718delGA

6 papers

NM_007294.4

p.Q240*

c.718C>T

1 paper

NM_007294.4

p.Q240E

c.718C>G

1 paper

NM_007294.4

p.E237_H239del3

c.709_716del9

2 papers

NM_007297.4

p.T187_H192del0

c.559_576del18

NM_007294.4

p.T234_H239del6

c.700_716del18

2 papers

NM_007294.4

p.F228_H239del12

c.682_716del36

1 paper

NM_007294.4

p.Q240H

c.720A>T

1 paper

NM_007294.4

p.Q240Q

c.720A>G

1 paper

NM_007294.4

p.Q240H

c.720A>C

1 paper

NM_007294.4

p.H239Q

c.717T>G

2 papers

NM_007294.4

p.H239H

c.717T>C