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.P192S

c.574C>T

Surrounding Variants

1 paper

NM_001958.5

p.G195S

c.583G>A

1 paper

NM_001958.5

p.T187I

c.560C>T

1 paper

NM_001958.5

p.D199D

c.597C>T

1 paper

NM_001958.5

p.I181I

c.543C>T

1 paper

NM_001958.5

p.S205A

c.613T>G

1 paper

NM_001958.5

p.P206A

c.616C>G

1 paper

NM_001958.5

p.N207Y

c.619A>T

1 paper

NM_001958.5

p.N207S

c.620A>G

2 papers

NM_001958.5

p.A176S

c.526G>T

1 paper

NM_001958.5

p.N207_M208Splc

c.621+1G>T

1 paper

NM_001958.5

p.S175R

c.525C>G

1 paper

NM_001958.5

p.S175R

c.525C>A