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.Y465fs

c.1393_1394fs

Surrounding Variants

1 paper

NM_007294.4

p.Y465*

c.1395T>G

1 paper

NM_007294.4

p.Y465Y

c.1395T>C

1 paper

NM_007294.4

p.Y465*

c.1395T>A

1 paper

NM_007294.4

p.R466fs

c.1396_1397fs

14 papers

NM_007294.4

p.R466W

c.1396C>T

15 papers

NM_007294.4

p.R466G

c.1396C>G

1 paper

NM_007294.4

p.T464_Y465del2

c.1390_1394del6

2 papers

NM_007294.4

p.Y465C

c.1394A>G

1 paper

NM_007294.4

p.Y465insFs

c.1393_1394insT

1 paper

NM_007294.4

p.G462_Y465insFs

c.1384_1393dup10

1 paper

NM_007294.4

p.Y465insFs

c.1393_1394insG

1 paper

NM_007294.4

p.T464_Y465insFs

c.1392_1393insC