Varaico: Literature-Extracted Genetic Variants

Gene:EHD4
Variant:p.N469N

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.N469N
c.1407C>T
Surrounding Variants
1 paper
NM_139265.4
p.G497S
c.1489G>A
1 paper
NM_139265.4
p.T421T
c.1263C>T
1 paper
NM_139265.4
p.Y518F
c.1553A>T
1 paper
NM_139265.4
p.L520L
c.1560G>A
2 papers
NM_139265.4
p.A416T
c.1246G>A
1 paper
NM_139265.4
p.D516_L528del0
c.1547_1582del36
1 paper
NM_139265.4
p.G517_V529del0
c.1550_1585del36
1 paper
NM_139265.4
p.D516_L528del13
c.1546_1583del39
1 paper
NM_139265.4
p.G517_V529del13
c.1549_1586del39
1 paper
NM_139265.4
p.P531S
c.1591C>T
1 paper
NM_139265.4
p.I400L
c.1198A>C
1 paper
NM_139265.4
p.K380R
c.1139A>G
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