Varaico: Literature-Extracted Genetic Variants

EHD2

65 papers

RefSeq Summary

This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipa...

Pfam Domains

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

Dynamin_Naa 61–221UCSCDynamin family

DUF5600aa 288–394UCSCDomain of unknown function (DUF5600)

EHaa 445–542UCSCEH domain

Gene Aliases

HGNC Name

EH domain containing 2

HGNC Previous Symbol

PAST2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014601.4

p.G65R

c.193G>C

Surrounding Variants

2 papers

NM_014601.4

p.T72A

c.214A>G

1 paper

NM_014601.4

p.G57S

c.169G>A

1 paper

NM_014601.4

p.D56N

c.166G>A

1 paper

NM_014601.4

p.P48L

c.143C>T

1 paper

NM_014601.4

p.E82K

c.244G>A

1 paper

NM_014601.4

p.H46L

c.137A>T

1 paper

NM_014601.4

p.A44T

c.130G>A

1 paper

NM_014601.4

p.A44P

c.130G>C

2 papers

NM_014601.4

p.T94A

c.280A>G

1 paper

NM_014601.4

p.P35S

c.103C>T

1 paper

NM_014601.4

p.C96S

c.286T>A

1 paper

NM_014601.4

p.C96S

c.287G>C