Varaico: Literature-Extracted Genetic Variants

Gene:SMURF2

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
1–12 of 76 variants
8 papers
NM_022739.4
p.C716G
c.2146T>G
4 papers
NM_022739.4
p.R427C
c.1279C>T
3 papers
NM_022739.4
p.T183M
c.548C>T
2 papers
NM_022739.4
p.D501_G502delFs
c.1502_1505del4
2 papers
NM_022739.4
p.T641A
c.1921A>G
1 paper
NM_022739.4
p.S2insFs
c.4_5insTT
1 paper
NM_022739.4
p.R7Q
c.20G>A
1 paper
NM_022739.4
p.N9T
c.26A>C
1 paper
NM_022739.4
p.G10E
c.29G>A
1 paper
NM_022739.4
p.C20F
c.59G>T
1 paper
NM_022739.4
p.F30insFs
c.89dupT
1 paper
NM_022739.4
p.K38R
c.113A>G
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