Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.A234V

ARMC5

167 papers

RefSeq Summary

This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is impli...

Pfam Domains

ARM_ARMC5aa 127–416UCSCARMC5

Gene Aliases

HGNC Name

armadillo repeat containing 5

HGNC Alias Symbol

FLJ13063

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001105247.2
p.A234V
c.701C>T
Surrounding Variants
3 papers
NM_001105247.2
p.Q235*
c.703C>T
2 papers
NM_001105247.2
p.L233fs
c.697_698fs
1 paper
NM_001288767.2
p.A327_L328insC
c.979_983ins3
2 papers
NM_001105247.2
p.A232delFs
c.696delC
2 papers
NM_001105247.2
p.G237_A238insC
c.709_713ins3
1 paper
NM_001105247.2
p.R240_L242ins1
c.719_724dup6
4 papers
NM_001105247.2
p.Q228*
c.682C>T
NM_001288767.2
p.Q323*
c.967C>T
1 paper
NM_001105247.2
p.L242insFs
c.724dupC
1 paper
NM_001105247.2
p.E244_A249del0
c.731_745del15
2 papers
NM_001105247.2
p.A224E
c.671C>A
3 papers
NM_001105247.2
p.A247_L256del10
c.739_767del30
3 papers
NM_001105247.2
p.L220fs
c.658_659fs
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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."