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

7 papers

NM_007294.4

p.A344T

c.1030G>A

Surrounding Variants

1 paper

NM_007294.4

p.A344S

c.1030G>T

2 papers

NM_007294.4

p.A344P

c.1030G>C

1 paper

NM_007294.4

p.N343delFs

c.1029delA

2 papers

NM_007294.4

p.L342_N343del2

c.1024_1028del6

1 paper

NM_007294.4

p.R331_N343del13

c.991_1028del39

1 paper

NM_007294.4

p.N343fs

c.1027_1028fs

6 papers

NM_007294.4

p.N343delFs

c.1027delT

1 paper

NM_007294.4

p.A344V

c.1031C>T

1 paper

NM_007294.4

p.A344G

c.1031C>G

2 papers

NM_007294.4

p.N343_A344delFs

c.1027_1030del4

2 papers

NM_007294.4

p.A344A

c.1032T>C

1 paper

NM_007294.4

p.N343I

c.1028A>T