Varaico: Literature-Extracted Genetic Variants

EIF2D

36 papers

RefSeq Summary

This gene encodes a translation initiation factor involved in the recruitment and delivery of aminoacyl-tRNAs to the P-site of the eukaryotic ribosome in a GTP-independent manner. This gene was previo...

Pfam Domains

Pre-PUAaa 2–90UCSCPre-PUA-like domain

PUA_elF2Daa 93–175UCSCelF2D, PUA domain

WHD_eIF2Daa 265–346UCSCeIF2D winged helix domain

SWIB_eIF2Daa 385–467UCSCeIF2D, SWIB domain

SUI1aa 487–567UCSCTranslation initiation factor SUI1

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2D

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006893.3

p.F30L

c.90C>A

Surrounding Variants

1 paper

NM_006893.3

p.F30L

c.90C>G

1 paper

NM_006893.3

p.F30L

c.88T>C

1 paper

NM_006893.3

p.G34E

c.101G>A

1 paper

NM_006893.3

p.V26M

c.76G>A

1 paper

NM_006893.3

p.R23L

c.68G>T

1 paper

NM_006893.3

p.P43H

c.128C>A

1 paper

NM_006893.3

p.L48I

c.142C>A

1 paper

NM_006893.3

p.A60S

c.178G>T

1 paper

NM_006893.3

p.L93L

c.277C>T

1 paper

NM_006893.3

p.L106R

c.317T>G

1 paper

NM_006893.3

p.M113R

c.338T>G

1 paper

NM_006893.3

p.C133_A134delFs

c.399_400delCA