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

6 papers

NM_007294.4

p.N53H

c.157A>C

Surrounding Variants

1 paper

NM_007294.4

p.N53fs

c.157_158fs

8 papers

NM_007294.4

p.N53Y

c.157A>T

7 papers

NM_007294.4

p.N53D

c.157A>G

1 paper

NM_007294.4

p.L52delFs

c.155_156delGA

1 paper

NM_007294.4

p.L51_L52del2

c.151_155del6

2 papers

NM_007294.4

p.L52L

c.156C>T

1 paper

NM_007294.4

p.L52L

c.156C>G

1 paper

NM_007294.4

p.L52fs

c.154_155fs

3 papers

NM_007294.4

p.L52L

c.156C>A

6 papers

NM_007294.4

p.N53I

c.158A>T

9 papers

NM_007294.4

p.N53S

c.158A>G

6 papers

NM_007294.4

p.N53T

c.158A>C