Varaico: Literature-Extracted Genetic Variants

EHD1

83 papers

RefSeq Summary

This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growt...

Pfam Domains

EHD_Naa 24–56UCSCN-terminal EH-domain containing protein

Dynamin_Naa 61–221UCSCDynamin family

DUF5600aa 288–394UCSCDomain of unknown function (DUF5600)

EHaa 441–534UCSCEH domain

Gene Aliases

HGNC Name

EH domain containing 1

HGNC Previous Symbol

PAST1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 78 variants

3 papers

NM_006795.4

p.G65R

c.193G>C

3 papers

NM_006795.4

p.G65R

c.193G>A

3 papers

NM_006795.4

p.R398W

c.1192C>T

3 papers

NM_006795.4

p.V472delFs

c.1414delC

3 papers

NM_006795.4

p.K483E

c.1447A>G

2 papers

NM_006795.4

p.T72A

c.214A>G

2 papers

NM_006795.4

p.T72N

c.215C>A

2 papers

NM_006795.4

p.A465D

c.1394C>A

2 papers

NM_006795.4

p.G494R

c.1480G>C

2 papers

NM_006795.4

p.G494R

c.1480G>A

1 paper

NM_006795.4

p.G24_L25delFs

c.71_75del5

1 paper

NM_006795.4

p.Y29C

c.86A>G