Varaico: Literature-Extracted Genetic Variants

Gene:EIF1AX
Variant:p.K7N

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.K7N
c.21A>T
Surrounding Variants
1 paper
NM_001412.4
p.K7N
c.21A>C
1 paper
NM_001412.4
p.G8*
c.22G>T
20 papers
NM_001412.4
p.G8R
c.22G>C
20 papers
NM_001412.4
p.G8R
c.22G>A
5 papers
NM_001412.4
p.K7R
c.20A>G
5 papers
NM_001412.4
p.G8V
c.23G>T
12 papers
NM_001412.4
p.G8E
c.23G>A
2 papers
NM_001412.4
p.K7_G8del1
c.20_22delCTT
2 papers
NM_001412.4
p.K7E
c.19A>G
12 papers
NM_001412.4
p.G6V
c.17G>T
1 paper
NM_001412.4
p.G9C
c.25G>T
29 papers
NM_001412.4
p.G9R
c.25G>C
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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."