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.P472insFs

c.1415_1416insA

Surrounding Variants

8 papers

NM_007294.4

p.P472S

c.1414C>T

1 paper

NM_007294.4

p.P472P

c.1416C>T

1 paper

NM_007294.4

p.P472T

c.1414C>A

35 papers

NM_007294.4

p.S470_L471del2

c.1408_1412del6

1 paper

NM_007294.4

p.L471L

c.1413C>T

2 papers

NM_007294.4

p.L471insFs

c.1412dupT

3 papers

NM_007294.4

p.N473fs

c.1417_1418fs

2 papers

NM_007294.4

p.N473Y

c.1417A>T

2 papers

NM_007294.4

p.N473D

c.1417A>G

8 papers

NM_007294.4

p.P472delFs

c.1416delG

1 paper

NM_007294.4

p.L471P

c.1412T>C

9 papers

NM_007294.4

p.N473I

c.1418A>T