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

39 papers

NM_007294.4

p.Y101Splc

c.301+1G>A

Surrounding Variants

10 papers

NM_007294.4

p.Y101Splc

c.301+1G>T

9 papers

NM_007294.4

p.Y101Splc

c.301+1G>C

1 paper

NM_007294.4

p.L86_Y101delFs

c.256_301del46

4 papers

NM_007294.4

p.Y101D

c.301T>G

2 papers

NM_007294.4

p.Y101Splc

c.301+2T>G

2 papers

NM_007294.4

p.Y101H

c.301T>C

1 paper

NM_007294.4

p.Y101Splc

c.301+2T>C

3 papers

NM_007294.4

p.Y101N

c.301T>A

1 paper

NM_007294.4

p.Y101Splc

c.301+2T>A

1 paper

NM_007294.4

p.E100delFs

c.300delC

1 paper

NM_007294.4

p.E100delFs

c.298_299delTC

1 paper

NM_007294.4

p.L99_Y101delins

c.297_301delinsCTCAA