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

2 papers

NM_007294.4

p.R1634Fs

c.4900_4901delinsGCCFs

Surrounding Variants

2 papers

NM_007294.4

p.R1634M

c.4901G>T

3 papers

NM_007294.4

p.R1634T

c.4901G>C

4 papers

NM_007294.4

p.R1634K

c.4901G>A

3 papers

NM_007294.4

p.R1634S

c.4902G>T

3 papers

NM_007294.4

p.R1634S

c.4902G>C

1 paper

NM_007294.4

p.R1634R

c.4902G>A

2 papers

NM_007294.4

p.R1634fs

c.4900_4901fs

56 papers

NM_007294.4

p.R1634G

c.4900A>G

8 papers

NM_007294.4

p.E1635*

c.4903G>T

6 papers

NM_007294.4

p.E1635Q

c.4903G>C

10 papers

NM_007294.4

p.E1635K

c.4903G>A

1 paper

NM_007294.4

p.R1634_E1635delins

c.4902_4903delinsCT