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.Q343K

c.1027C>A

Surrounding Variants

1 paper

NM_001958.5

p.Q343_V344Splc

c.1029+3G>T

1 paper

NM_001958.5

p.A338S

c.1012G>T

1 paper

NM_001958.5

p.P333P

c.999G>A

8 papers

NM_001958.5

p.P333L

c.998C>T

1 paper

NM_001958.5

p.P333S

c.997C>T

1 paper

NM_001958.5

p.C326F

c.977G>T

1 paper

NM_001958.5

p.G323_N324ins10

c.967_971ins30

1 paper

NM_001958.5

p.K318R

c.953A>G

1 paper

NM_001958.5

p.V317insFs

c.949_950insC

3 papers

NM_001958.5

p.N314K

c.942C>G

3 papers

NM_001958.5

p.N314K

c.942C>A

1 paper

NM_001958.5

p.N311K

c.933T>G