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

Selected Variant

2 papers

NM_006795.4

p.T72A

c.214A>G

Surrounding Variants

2 papers

NM_006795.4

p.T72N

c.215C>A

1 paper

NM_006795.4

p.T73S

c.218C>G

1 paper

NM_006795.4

p.G70D

c.209G>A

1 paper

NM_006795.4

p.S68I

c.203G>T

1 paper

NM_006795.4

p.S68N

c.203G>A

1 paper

NM_006795.4

p.K71_I75del5

c.211_224del15

1 paper

NM_006795.4

p.Q66L

c.197A>T

1 paper

NM_006795.4

p.L78L

c.232C>T

3 papers

NM_006795.4

p.G65R

c.193G>C

3 papers

NM_006795.4

p.G65R

c.193G>A

1 paper

NM_006795.4

p.I79I

c.237C>T

1 paper

NM_006795.4

p.E80V

c.239A>T