Varaico: Literature-Extracted Genetic Variants

Gene:SMURF2
Variant:p.R427C

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
4 papers
NM_022739.4
p.R427C
c.1279C>T
Surrounding Variants
1 paper
NM_022739.4
p.D433A
c.1298A>C
1 paper
NM_022739.4
p.Y434F
c.1301A>T
1 paper
NM_022739.4
p.E401K
c.1201G>A
1 paper
NM_022739.4
p.R394H
c.1181G>A
1 paper
NM_022739.4
p.R394C
c.1180C>T
1 paper
NM_022739.4
p.S384A
c.1150T>G
1 paper
NM_022739.4
p.E382G
c.1145A>G
1 paper
NM_022739.4
p.K375R
c.1124A>G
1 paper
NM_022739.4
p.Q374H
c.1122G>T
1 paper
NM_022739.4
p.Q374H
c.1122G>C
1 paper
NM_022739.4
p.R367G
c.1099A>G
1 paper
NM_022739.4
p.N342K
c.1026C>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."