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.V122_S123ins8

c.364_368ins24

Surrounding Variants

1 paper

NM_007294.4

p.V122fs

c.364_365fs

1 paper

NM_007294.4

p.V122F

c.364G>T

1 paper

NM_007294.4

p.E121_V122ins1

c.363_364insACA

1 paper

NM_007294.4

p.V122L

c.364G>C

3 papers

NM_007294.4

p.V122I

c.364G>A

1 paper

NM_007294.4

p.E121delFs

c.362delT

1 paper

NM_007294.4

p.L118_E121del4

c.352_362del12

1 paper

NM_007294.4

p.N112_E121delFs

c.335_363del29

1 paper

NM_007294.4

p.V122G

c.365T>G

1 paper

NM_007294.4

p.V122A

c.365T>C

1 paper

NM_007294.4

p.V122D

c.365T>A

3 papers

NM_007294.4

p.E121_V122delFs

c.363_364delCT