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

1 paper

NM_006795.4

p.F368L

c.1104C>A

Surrounding Variants

1 paper

NM_006795.4

p.F368L

c.1104C>G

1 paper

NM_006795.4

p.F368L

c.1102T>C

1 paper

NM_006795.4

p.D367N

c.1099G>A

1 paper

NM_006795.4

p.L363P

c.1088T>C

1 paper

NM_006795.4

p.D383Y

c.1147G>T

1 paper

NM_006795.4

p.N388_D389insGA

c.1162_1166ins6

1 paper

NM_006795.4

p.A391T

c.1171G>A

1 paper

NM_006795.4

p.R392Q

c.1175G>A

3 papers

NM_006795.4

p.R398W

c.1192C>T

1 paper

NM_006795.4

p.G429R

c.1285G>C

1 paper

NM_006795.4

p.G429R

c.1285G>A

1 paper

NM_006795.4

p.D436D

c.1308C>T