Varaico: Literature-Extracted Genetic Variants

Gene:EHD4
Variant:p.Y172C

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
Selected Variant
1 paper
NM_139265.4
p.Y172C
c.515A>G
Surrounding Variants
1 paper
NM_139265.4
p.Y172_Q176delFs
c.516_528del13
1 paper
NM_139265.4
p.D173_V177delFs
c.517_529del13
1 paper
NM_139265.4
p.A182V
c.545C>T
1 paper
NM_139265.4
p.D186Y
c.556G>T
1 paper
NM_139265.4
p.F192I
c.574T>A
1 paper
NM_139265.4
p.V220M
c.658G>A
1 paper
NM_139265.4
p.A224A
c.672C>T
1 paper
NM_139265.4
p.T229M
c.686C>T
1 paper
NM_139265.4
p.L232V
c.694C>G
1 paper
NM_139265.4
p.R254H
c.761G>A
1 paper
NM_139265.4
p.A262V
c.785C>T
1 paper
NM_139265.4
p.D269Y
c.805G>T
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