Varaico: Literature-Extracted Genetic Variants

EEF1A2

412 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 2) 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 2

HGNC Previous Symbol

STNL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001958.5

p.V289E

c.866T>A

Surrounding Variants

1 paper

NM_001958.5

p.E288D

c.864G>T

1 paper

NM_001958.5

p.E288D

c.864G>C

2 papers

NM_001958.5

p.E288K

c.862G>A

1 paper

NM_001958.5

p.H295D

c.883C>G

1 paper

NM_001958.5

p.E297K

c.889G>A

1 paper

NM_001958.5

p.A281V

c.842C>T

1 paper

NM_001958.5

p.V278L

c.832G>T

1 paper

NM_001958.5

p.V278L

c.832G>C

2 papers

NM_001958.5

p.E301K

c.901G>A

1 paper

NM_001958.5

p.G275G

c.825C>T

1 paper

NM_001958.5

p.G275D

c.824G>A

1 paper

NM_001958.5

p.P274R

c.821C>G