Varaico: Literature-Extracted Genetic Variants

Gene:EHD4

EHD4

39 papers

Pfam Domains

EHD_Naa 27–59UCSCN-terminal EH-domain containing protein
Dynamin_Naa 64–224UCSCDynamin family
DUF5600aa 291–397UCSCDomain of unknown function (DUF5600)
EHaa 443–541UCSCEH domain

Gene Aliases

HGNC Name

EH domain containing 4

HGNC Previous Symbol

PAST4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
2 papers
NM_139265.4
p.A416T
c.1246G>A
1 paper
NM_139265.4
p.A15_A20delFs
c.44_60del17
1 paper
NM_139265.4
p.A56D
c.167C>A
1 paper
NM_139265.4
p.M63R
c.188T>G
1 paper
NM_139265.4
p.G68R
c.202G>C
1 paper
NM_139265.4
p.T75N
c.224C>A
1 paper
NM_139265.4
p.P124S
c.370C>T
1 paper
NM_139265.4
p.V154I
c.460G>A
1 paper
NM_139265.4
p.I168L
c.502A>C
1 paper
NM_139265.4
p.Y172C
c.515A>G
1 paper
NM_139265.4
p.Y172_Q176delFs
c.516_528del13
1 paper
NM_139265.4
p.D173_V177delFs
c.517_529del13
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