Varaico: Literature-Extracted Genetic Variants

Gene:EIF1AX
Variant:p.K7E

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
2 papers
NM_001412.4
p.K7E
c.19A>G
Surrounding Variants
5 papers
NM_001412.4
p.K7R
c.20A>G
12 papers
NM_001412.4
p.G6V
c.17G>T
1 paper
NM_001412.4
p.G6A
c.17G>C
12 papers
NM_001412.4
p.G6D
c.17G>A
1 paper
NM_001412.4
p.K7N
c.21A>T
1 paper
NM_001412.4
p.K7N
c.21A>C
2 papers
NM_001412.4
p.G6Splc
c.17-1G>T
1 paper
NM_001412.4
p.G8*
c.22G>T
20 papers
NM_001412.4
p.G8R
c.22G>C
7 papers
NM_001412.4
p.G6R
c.16G>C
20 papers
NM_001412.4
p.G8R
c.22G>A
5 papers
NM_001412.4
p.G8V
c.23G>T
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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."