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.V738A

c.2213T>C

Surrounding Variants

1 paper

NM_007294.4

p.V738G

c.2213T>G

1 paper

NM_007294.4

p.V738delFs

c.2212delC

1 paper

NM_007294.4

p.E736_T737del2

c.2206_2210del6

2 papers

NM_007294.4

p.V738_K739insFs

c.2214_2215insCT

1 paper

NM_007294.4

p.V738fs

c.2212_2213fs

1 paper

NM_007294.4

p.V738V

c.2214T>A

1 paper

NM_007294.4

p.V738fs

c.2212_2213fs

1 paper

NM_007294.4

p.V738insFs

c.2212_2213insC

2 papers

NM_007294.4

p.T737insFs

c.2211dupA

6 papers

NM_007294.4

p.V738I

c.2212G>A

1 paper

NM_007294.4

p.T737delFs

c.2210_2211delTG

18 papers

NM_007294.4

p.K739*

c.2215A>T