Varaico: Literature-Extracted Genetic Variants

Gene:SMURF2
Variant:p.F504L

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.F504L
c.1512C>A
Surrounding Variants
1 paper
NM_022739.4
p.F504L
c.1512C>G
1 paper
NM_022739.4
p.F504L
c.1510T>C
2 papers
NM_022739.4
p.D501_G502delFs
c.1502_1505del4
1 paper
NM_022739.4
p.P507insFs
c.1519dupC
1 paper
NM_022739.4
p.P507delFs
c.1519delG
1 paper
NM_022739.4
p.D501fs
c.1501_1502fs
1 paper
NM_022739.4
p.R488*
c.1462C>T
1 paper
NM_022739.4
p.P477S
c.1429C>T
1 paper
NM_022739.4
p.S473F
c.1418C>T
1 paper
NM_022739.4
p.F457F
c.1371C>T
1 paper
NM_022739.4
p.Y585C
c.1754A>G
1 paper
NM_022739.4
p.Y585S
c.1754A>C
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