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.L73insFs

c.218dupT

Surrounding Variants

2 papers

NM_007294.4

p.L73L

c.219A>T

1 paper

NM_007294.4

p.L73L

c.219A>G

1 paper

NM_007294.4

p.L73L

c.219A>C

1 paper

NM_007294.4

p.L73fs

c.217_218fs

1 paper

NM_007294.4

p.S72_L73insFs

c.216_217insC

6 papers

NM_007294.4

p.L73R

c.218T>G

8 papers

NM_007294.4

p.L73P

c.218T>C

6 papers

NM_007294.4

p.L73Q

c.218T>A

1 paper

NM_007294.4

p.L73delFs

c.217delG

29 papers

NM_007294.4

p.Q74*

c.220C>T

5 papers

NM_007294.4

p.Q74E

c.220C>G

9 papers

NM_007294.4

p.Q74K

c.220C>A