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

38 papers

NM_007294.4

p.Y101*

c.303T>G

Surrounding Variants

1 paper

NM_007294.4

p.Y101Y

c.303T>C

28 papers

NM_007294.4

p.Y101*

c.303T>A

1 paper

NM_007294.4

p.Y101delins

c.302_303delinsGA

2 papers

NM_007294.4

p.A102S

c.304G>T

1 paper

NM_007294.4

p.A102insFs

c.304_305insA

1 paper

NM_007294.4

p.A102P

c.304G>C

4 papers

NM_007294.4

p.A102T

c.304G>A

4 papers

NM_007294.4

p.Y101C

c.302A>G

1 paper

NM_007294.4

p.Y101S

c.302A>C

5 papers

NM_007294.4

p.Y101D

c.301T>G

2 papers

NM_007294.4

p.Y101H

c.301T>C

7 papers

NM_007294.4

p.Y101N

c.301T>A