Varaico: Literature-Extracted Genetic Variants

Gene:LAGE3
Variant:p.P39insFs

LAGE3

40 papers

RefSeq Summary

This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally e...

Pfam Domains

Pcc1aa 62–135UCSCTranscription factor Pcc1

Gene Aliases

HGNC Name

L antigen family member 3

HGNC Alias Symbols

ITBA2; CVG5; DXS9951E; DXS9879E; ESO3; Pcc1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006014.5
p.P39insFs
c.116dupC
Surrounding Variants
2 papers
NM_006014.5
p.A40fs
c.118_119fs
1 paper
NM_006014.5
p.R47G
c.139A>G
1 paper
NM_006014.5
p.V27L
c.79G>T
1 paper
NM_006014.5
p.V27L
c.79G>C
1 paper
NM_006014.5
p.C23F
c.68G>T
2 papers
NM_006014.5
p.S22fs
c.64_65fs
2 papers
NM_006014.5
p.S22insFs
c.64dupA
2 papers
NM_006014.5
p.R57*
c.169C>T
1 paper
NM_006014.5
p.G19D
c.56G>A
2 papers
NM_006014.5
p.I62V
c.184A>G
1 paper
NM_006014.5
p.I62R
c.185T>G
4 papers
NM_006014.5
p.F63Splc
c.188+1G>A
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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."