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.N324S

c.971A>G

Surrounding Variants

1 paper

NM_001402.6

p.R321insFs

c.961_962insC

1 paper

NM_001402.6

p.D328G

c.983A>G

1 paper

NM_001402.6

p.V320I

c.958G>A

1 paper

NM_001402.6

p.S329N

c.986G>A

2 papers

NM_001402.6

p.P333S

c.997C>T

2 papers

NM_001402.6

p.V315L

c.943G>T

2 papers

NM_001402.6

p.V315L

c.943G>C

2 papers

NM_001402.6

p.A338G

c.1013C>G

1 paper

NM_001402.6

p.T341A

c.1021A>G

1 paper

NM_001402.6

p.N307T

c.920A>C

2 papers

NM_001402.6

p.A342T

c.1024G>A

1 paper

NM_001402.6

p.D306G

c.917A>G