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.D1152D

c.3456C>T

Surrounding Variants

1 paper

NM_007294.4

p.D1152fs

c.3454_3455fs

1 paper

NM_007294.4

p.D1152delFs

c.3455delT

1 paper

NM_007294.4

p.D1151del1

c.3451_3452delATC

6 papers

NM_007294.4

p.L1153fs

c.3457_3458fs

3 papers

NM_007294.4

p.L1153V

c.3457C>G

1 paper

NM_007294.4

p.D1152V

c.3455A>T

1 paper

NM_007294.4

p.D1152G

c.3455A>G

2 papers

NM_007294.4

p.L1153R

c.3458T>G

1 paper

NM_007294.4

p.L1153P

c.3458T>C

1 paper

NM_007294.4

p.D1152Y

c.3454G>T

1 paper

NM_007294.4

p.D1152insFs

c.3454_3455insC

6 papers

NM_007294.4

p.D1152H

c.3454G>C