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.N9D

c.25A>G

Surrounding Variants

1 paper

NM_001402.6

p.I8fs

c.22_23fs

1 paper

NM_001402.6

p.N9S

c.26A>G

1 paper

NM_001402.6

p.I10V

c.28A>G

1 paper

NM_001402.6

p.I8V

c.22A>G

1 paper

NM_001402.6

p.V11I

c.31G>A

1 paper

NM_001402.6

p.M1_T6del0

c.1_18del18

1 paper

NM_001402.6

p.V12L

c.34G>C

3 papers

NM_001402.6

p.V12D

c.35T>A

1 paper

NM_001402.6

p.K5K

c.15G>A

3 papers

NM_001402.6

p.K5R

c.14A>G

1 paper

NM_001402.6

p.K5T

c.14A>C

1 paper

NM_001402.6

p.I13N

c.38T>A