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.K680R

c.2039A>G

Surrounding Variants

1 paper

NM_007294.4

p.K680fs

c.2038_2039fs

2 papers

NM_007294.4

p.K680N

c.2040G>C

1 paper

NM_007294.4

p.K680K

c.2040G>A

2 papers

NM_007294.4

p.K680fs

c.2038_2039fs

1 paper

NM_007294.4

p.K680E

c.2038A>G

2 papers

NM_007294.4

p.K680insFs

c.2038_2039insCC

1 paper

NM_007294.4

p.A678_K679delFs

c.2033_2037del5

1 paper

NM_007294.4

p.P674_K679delFs

c.2021_2037del17

4 papers

NM_007294.4

p.K679_K680insFs

c.2037_2038insC

3 papers

NM_007294.4

p.K679fs

c.2035_2036fs

1 paper

NM_007294.4

p.K679delins

c.2037delinsC

24 papers

NM_007294.4

p.K679Fs

c.2037delinsCCFs