Varaico: Literature-Extracted Genetic Variants

EEF1A2

412 papers

RefSeq Summary

This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expr...

Pfam Domains

GTP_EFTUaa 5–238UCSCElongation factor Tu GTP binding domain

GTP_EFTU_D2aa 260–327UCSCElongation factor Tu domain 2

GTP-eEF1A_Caa 339–439UCSCGTP-eEF1A C-terminal domain-like

Gene Aliases

HGNC Name

eukaryotic translation elongation factor 1 alpha 2

HGNC Previous Symbol

STNL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001958.5

p.E220G

c.659A>G

Surrounding Variants

2 papers

NM_001958.5

p.E220K

c.658G>A

1 paper

NM_001958.5

p.K219R

c.656A>G

3 papers

NM_001958.5

p.R218S

c.652C>A

1 paper

NM_001958.5

p.A223T

c.667G>A

1 paper

NM_001958.5

p.A223V

c.668C>T

1 paper

NM_001958.5

p.E217G

c.650A>G

1 paper

NM_001958.5

p.G225_V226Fs

c.675_676delinsGFs

1 paper

NM_001958.5

p.G225_V226delFs

c.674_677del4

1 paper

NM_001958.5

p.F211L

c.633C>G

1 paper

NM_001958.5

p.F211L

c.633C>A

1 paper

NM_001958.5

p.F211L

c.631T>C

1 paper

NM_001958.5

p.M208T

c.623T>C