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.S18*

c.53C>A

Surrounding Variants

1 paper

NM_001402.6

p.K20R

c.59A>G

1 paper

NM_001402.6

p.K20N

c.60G>T

1 paper

NM_001402.6

p.V16L

c.46G>T

1 paper

NM_001402.6

p.K20N

c.60G>C

1 paper

NM_001402.6

p.V16L

c.46G>C

3 papers

NM_001402.6

p.K20K

c.60G>A

1 paper

NM_001402.6

p.S21T

c.61T>A

2 papers

NM_001402.6

p.H15H

c.45C>T

1 paper

NM_001402.6

p.S21Y

c.62C>A

2 papers

NM_001402.6

p.T22S

c.64A>T

1 paper

NM_001402.6

p.G14E

c.41G>A

2 papers

NM_001402.6

p.T22S

c.65C>G