Varaico: Literature-Extracted Genetic Variants

Gene:EHD3
Variant:p.G429R

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
2 papers
NM_014600.3
p.G429R
c.1285G>A
Surrounding Variants
2 papers
NM_014600.3
p.G429R
c.1285G>C
1 paper
NM_014600.3
p.A430G
c.1289C>G
1 paper
NM_014600.3
p.G420S
c.1258G>A
1 paper
NM_014600.3
p.E438D
c.1314G>C
1 paper
NM_014600.3
p.E438D
c.1314G>T
1 paper
NM_014600.3
p.D449G
c.1346A>G
1 paper
NM_014600.3
p.Y453*
c.1359C>A
1 paper
NM_014600.3
p.Y453*
c.1359C>G
1 paper
NM_014600.3
p.H388Y
c.1162C>T
1 paper
NM_014600.3
p.R473C
c.1417C>T
1 paper
NM_014600.3
p.K377R
c.1130A>G
1 paper
NM_014600.3
p.D497D
c.1491C>T
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