Varaico: Literature-Extracted Genetic Variants

EEF1A1

320 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 1) 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 1

HGNC Previous Symbols

EF1A; LENG7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001402.6

p.M276T

c.827T>C

Surrounding Variants

1 paper

NM_001402.6

p.V271L

c.811G>C

1 paper

NM_001402.6

p.P282L

c.845C>T

1 paper

NM_001402.6

p.T269S

c.806C>G

1 paper

NM_001402.6

p.T269S

c.805A>T

1 paper

NM_001402.6

p.E268V

c.803A>T

1 paper

NM_001402.6

p.E268Q

c.802G>C

4 papers

NM_001402.6

p.E293K

c.877G>A

1 paper

NM_001402.6

p.G258G

c.774T>G

1 paper

NM_001402.6

p.H295R

c.884A>G

1 paper

NM_001402.6

p.E297A

c.890A>C

1 paper

NM_001402.6

p.A298T

c.892G>A

1 paper

NM_001402.6

p.A298G

c.893C>G