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

7 papers

NM_007294.4

p.P1831R

c.5492C>G

Surrounding Variants

5 papers

NM_007294.4

p.P1831L

c.5492C>T

1 paper

NM_007294.4

p.P1831insFs

c.5492_5493insT

1 paper

NM_007294.4

p.P1831H

c.5492C>A

1 paper

NM_007294.4

p.P1831fs

c.5491_5492fs

17 papers

NM_007294.4

p.P1831delFs

c.5492delG

7 papers

NM_007294.4

p.P1831fs

c.5491_5492fs

1 paper

NM_007294.4

p.P1831S

c.5491C>T

1 paper

NM_007294.4

p.P1831A

c.5491C>G

1 paper

NM_007294.4

p.P1831_V1832insA

c.5491_5495ins3

3 papers

NM_007294.4

p.P1831T

c.5491C>A

3 papers

NM_007294.4

p.A1830delFs

c.5490delT

1 paper

NM_007294.4

p.Q1826_A1830delFs

c.5478_5490del13