Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.Q228*

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
4 papers
NM_001105247.2
p.Q228*
c.682C>T
NM_001288767.2
p.Q323*
c.967C>T
Surrounding Variants
2 papers
NM_001105247.2
p.A224E
c.671C>A
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.L233fs
c.697_698fs
1 paper
NM_001105247.2
p.A234V
c.701C>T
3 papers
NM_001105247.2
p.Q235*
c.703C>T
3 papers
NM_001105247.2
p.L220fs
c.658_659fs
2 papers
NM_001105247.2
p.G237_A238insC
c.709_713ins3
1 paper
NM_001105247.2
p.L220delFs
c.658delC
1 paper
NM_001105247.2
p.R240_L242ins1
c.719_724dup6
1 paper
NM_001105247.2
p.V216M
c.646G>A
1 paper
NM_001105247.2
p.L242insFs
c.724dupC
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