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.L299*

c.896T>A

Surrounding Variants

1 paper

NM_001402.6

p.S300C

c.898A>T

1 paper

NM_001402.6

p.A298G

c.893C>G

1 paper

NM_001402.6

p.A298T

c.892G>A

1 paper

NM_001402.6

p.E301G

c.902A>G

1 paper

NM_001402.6

p.E297A

c.890A>C

1 paper

NM_001402.6

p.H295R

c.884A>G

1 paper

NM_001402.6

p.P304L

c.911C>T

4 papers

NM_001402.6

p.E293K

c.877G>A

1 paper

NM_001402.6

p.D306G

c.917A>G

1 paper

NM_001402.6

p.N307T

c.920A>C

2 papers

NM_001402.6

p.V315L

c.943G>T

2 papers

NM_001402.6

p.V315L

c.943G>C