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.E340K

c.1018G>A

Surrounding Variants

1 paper

NM_006893.3

p.P350T

c.1048C>A

1 paper

NM_006893.3

p.Q328H

c.984G>T

1 paper

NM_006893.3

p.Q328H

c.984G>C

1 paper

NM_006893.3

p.P378L

c.1133C>T

1 paper

NM_006893.3

p.Y385C

c.1154A>G

1 paper

NM_006893.3

p.M391L

c.1171A>T

1 paper

NM_006893.3

p.M391L

c.1171A>C

1 paper

NM_006893.3

p.G399_H400del2

c.1195_1199del6

1 paper

NM_006893.3

p.K421E

c.1261A>G

1 paper

NM_006893.3

p.M297V

c.889A>G

1 paper

NM_006893.3

p.D256D

c.768T>C

1 paper

NM_006893.3

p.R233H

c.698G>A