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

1–12 of 238 variants

6 papers

NM_001402.6

p.T432I

c.1295C>T

4 papers

NM_001402.6

p.D156N

c.466G>A

4 papers

NM_001402.6

p.E293K

c.877G>A

4 papers

NM_001402.6

p.Q352K

c.1054C>A

3 papers

NM_001402.6

p.K5R

c.14A>G

3 papers

NM_001402.6

p.V12D

c.35T>A

3 papers

NM_001402.6

p.K20K

c.60G>A

3 papers

NM_001402.6

p.I75T

c.224T>C

3 papers

NM_001402.6

p.D97N

c.289G>A

3 papers

NM_001402.6

p.D110G

c.329A>G

3 papers

NM_001402.6

p.T432S

c.1294A>T

2 papers

NM_001402.6

p.M1T

c.2T>C