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

46 papers

NM_007294.4

p.V271M

c.811G>A

Surrounding Variants

10 papers

NM_007294.4

p.V271L

c.811G>T

1 paper

NM_007294.4

p.V271_E272insTA

c.811_815ins6

8 papers

NM_007294.4

p.V271L

c.811G>C

2 papers

NM_007294.4

p.V271G

c.812T>G

2 papers

NM_007294.4

p.H270Q

c.810T>G

3 papers

NM_007294.4

p.V271A

c.812T>C

3 papers

NM_007294.4

p.H270Q

c.810T>A

1 paper

NM_007294.4

p.V271E

c.812T>A

1 paper

NM_007294.4

p.V271delFs

c.811delC

8 papers

NM_007294.4

p.H270delFs

c.809delT

1 paper

NM_007294.4

p.V271_E272insFs

c.813_814ins10

1 paper

NM_007294.4

p.V271_E272ins1

c.813_814insTAG