Varaico: Literature-Extracted Genetic Variants

Gene:SMURF2
Variant:p.F598S

SMURF2

104 papers

Pfam Domains

C2aa 12–115UCSCC2 domain
WWaa 159–188UCSCWW domain
WWaa 253–282UCSCWW domain
WWaa 299–328UCSCWW domain
HECTaa 443–748UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

SMAD specific E3 ubiquitin protein ligase 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022739.4
p.F598S
c.1793T>C
Surrounding Variants
1 paper
NM_022739.4
p.A596T
c.1786G>A
1 paper
NM_022739.4
p.Y585C
c.1754A>G
1 paper
NM_022739.4
p.Y585S
c.1754A>C
1 paper
NM_022739.4
p.G628V
c.1883G>T
1 paper
NM_022739.4
p.V634A
c.1901T>C
1 paper
NM_022739.4
p.D636G
c.1907A>G
2 papers
NM_022739.4
p.T641A
c.1921A>G
1 paper
NM_022739.4
p.F662fs
c.1984_1985fs
1 paper
NM_022739.4
p.F662insFs
c.1984_1985insT
1 paper
NM_022739.4
p.P507insFs
c.1519dupC
1 paper
NM_022739.4
p.P507delFs
c.1519delG
1 paper
NM_022739.4
p.F504L
c.1512C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."