Varaico: Literature-Extracted Genetic Variants

Gene:EHD3
Variant:p.M60L

EHD3

54 papers

Pfam Domains

EHD_Naa 24–56UCSCN-terminal EH-domain containing protein
Dynamin_Naa 61–221UCSCDynamin family
DUF5600aa 288–394UCSCDomain of unknown function (DUF5600)
EHaa 441–535UCSCEH domain

Gene Aliases

HGNC Name

EH domain containing 3

HGNC Previous Symbol

PAST3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014600.3
p.M60L
c.178A>C
Surrounding Variants
1 paper
NM_014600.3
p.M60L
c.178A>T
2 papers
NM_014600.3
p.D56H
c.166G>C
1 paper
NM_014600.3
p.T72N
c.215C>A
1 paper
NM_014600.3
p.E38V
c.113A>T
1 paper
NM_014600.3
p.K32N
c.96G>C
1 paper
NM_014600.3
p.K32N
c.96G>T
1 paper
NM_014600.3
p.K32R
c.95A>G
1 paper
NM_014600.3
p.L25P
c.74T>C
1 paper
NM_014600.3
p.G24W
c.70G>T
1 paper
NM_014600.3
p.E23D
c.69G>C
1 paper
NM_014600.3
p.E23D
c.69G>T
1 paper
NM_014600.3
p.D8D
c.24C>T
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