Varaico: Literature-Extracted Genetic Variants

Gene:LAGE3
Variant:p.S119P

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
1 paper
NM_006014.5
p.S119P
c.355T>C
Surrounding Variants
1 paper
NM_006014.5
p.D112N
c.334G>A
1 paper
NM_006014.5
p.L129R
c.386T>G
1 paper
NM_006014.5
p.V130G
c.389T>G
1 paper
NM_006014.5
p.V106A
c.317T>C
3 papers
NM_006014.5
p.V106F
c.316G>T
1 paper
NM_006014.5
p.R132L
c.395G>T
1 paper
NM_006014.5
p.R132Q
c.395G>A
5 papers
NM_006014.5
p.F137S
c.410T>C
1 paper
NM_006014.5
p.P140insFs
c.420dupC
1 paper
NM_006014.5
p.V141fs
c.421_422fs
4 papers
NM_006014.5
p.V106Splc
c.317+4A>G
1 paper
NM_006014.5
p.V106A
c.317T>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."