Varaico: Literature-Extracted Genetic Variants

Gene:ARMCX2
Variant:p.S273L

ARMCX2

32 papers

RefSeq Summary

This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tis...

Pfam Domains

Arm_2aa 383–601UCSCArmadillo-like

Gene Aliases

HGNC Name

armadillo repeat containing X-linked 2

HGNC Alias Symbols

ALEX2; KIAA0512; GASP9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_177949.4
p.S273L
c.818C>T
Surrounding Variants
1 paper
NM_177949.4
p.A274V
c.821C>T
1 paper
NM_177949.4
p.G276A
c.827G>C
1 paper
NM_177949.4
p.P269L
c.806C>T
1 paper
NM_177949.4
p.G262R
c.784G>C
1 paper
NM_177949.4
p.G262R
c.784G>A
2 papers
NM_177949.4
p.G295D
c.884G>A
1 paper
NM_177949.4
p.E303Q
c.907G>C
1 paper
NM_177949.4
p.D305H
c.913G>C
1 paper
NM_177949.4
p.G310G
c.930C>T
1 paper
NM_177949.4
p.R312H
c.935G>A
1 paper
NM_177949.4
p.G316A
c.947G>C
1 paper
NM_177949.4
p.T227I
c.680C>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."