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

3 papers

NM_006795.4

p.V472delFs

c.1414delC

Surrounding Variants

1 paper

NM_006795.4

p.V472fs

c.1414_1415fs

1 paper

NM_006795.4

p.K475E

c.1423A>G

1 paper

NM_006795.4

p.A467T

c.1399G>A

2 papers

NM_006795.4

p.A465D

c.1394C>A

1 paper

NM_006795.4

p.T479N

c.1436C>A

1 paper

NM_006795.4

p.V480E

c.1439T>A

3 papers

NM_006795.4

p.K483E

c.1447A>G

1 paper

NM_006795.4

p.T454T

c.1362G>T

1 paper

NM_006795.4

p.V490M

c.1468G>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.L495M

c.1483C>A