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

27 papers

NM_007294.4

p.Q356*

c.1066C>T

Surrounding Variants

6 papers

NM_007294.4

p.Q356fs

c.1066_1067fs

1 paper

NM_007294.4

p.Q356E

c.1066C>G

1 paper

NM_007294.4

p.K355delFs

c.1065delC

1 paper

NM_007297.4

p.K308delFs

c.923_924delCT

1 paper

NM_007294.4

p.K355fs

c.1063_1064fs

1 paper

NM_007294.4

p.K355_Q356insFs

c.1065_1066insA

11 papers

NM_007294.4

p.K355K

c.1065G>A

1 paper

NM_007294.4

p.K355delFs

c.1064delT

1 paper

NM_007297.4

p.K308Fs

c.922_924delinsTFs

1 paper

NM_007294.4

p.Q356L

c.1067A>T

290 papers

NM_007294.4

p.Q356R

c.1067A>G

2 papers

NM_007294.4

p.Q356H

c.1068G>T