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

13 papers

NM_007294.4

p.M1insFs

c.2_3insG

Surrounding Variants

1 paper

NM_007294.4

p.M1insFs

c.2_3ins8

1 paper

NM_007294.4

p.M1insFs

c.2_3insAG

2 papers

NM_007294.4

p.M1insFs

c.2_3insC

10 papers

NM_007294.4

p.M1insFs

c.2_3insA

1 paper

NM_007294.4

p.M1insFs

c.1_2insAG

35 papers

NM_007294.4

p.M1R

c.2T>G

1 paper

NM_007294.4

p.M1Fs

c.2delinsCGFs

2 papers

NM_007294.4

p.M1Fs

c.2delinsAGFs

33 papers

NM_007294.4

p.M1T

c.2T>C

11 papers

NM_007294.4

p.M1K

c.2T>A

49 papers

NM_007294.4

p.M1I

c.3G>T

35 papers

NM_007294.4

p.M1insFs

c.2dupT