Varaico: Literature-Extracted Genetic Variants

Gene:EIF1AX
Variant:p.R12G

EIF1AX

193 papers

RefSeq Summary

This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped...

Pfam Domains

eIF-1aaa 32–94UCSCTranslation initiation factor 1A / IF-1

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 1A X-linked

HGNC Previous Symbols

EIF4C; EIF1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001412.4
p.R12G
c.34A>G
Surrounding Variants
1 paper
NM_001412.4
p.R12S
c.36A>T
14 papers
NM_001412.4
p.R13C
c.37C>T
3 papers
NM_001412.4
p.R13G
c.37C>G
6 papers
NM_001412.4
p.R13L
c.38G>T
15 papers
NM_001412.4
p.R13P
c.38G>C
14 papers
NM_001412.4
p.R13H
c.38G>A
1 paper
NM_001412.4
p.K10N
c.30A>T
1 paper
NM_001412.4
p.K10N
c.30A>C
1 paper
NM_001412.4
p.K10T
c.29A>C
4 papers
NM_001412.4
p.R14W
c.40A>T
14 papers
NM_001412.4
p.K10E
c.28A>G
3 papers
NM_001412.4
p.G9del1
c.25_26delACC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."