Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.R793Q

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.R793Q
c.2378G>A
NM_001288767.2
p.R888Q
c.2663G>A
Surrounding Variants
1 paper
NM_001105247.2
p.R793*
c.2377C>T
3 papers
NM_001105247.2
p.G798A
c.2393G>C
3 papers
NM_001105247.2
p.P802R
c.2405C>G
1 paper
NM_001105247.2
p.P802L
c.2405C>T
1 paper
NM_001105247.2
p.V803G
c.2408T>G
1 paper
NM_001301820.1
p.G812delFs
c.2436delC
4 papers
NM_001105247.2
p.S779*
c.2336C>A
4 papers
NM_001105247.2
p.S779*
c.2336C>G
8 papers
NM_001105247.2
p.H808P
c.2423A>C
1 paper
NM_001105247.2
p.L778P
c.2333T>C
3 papers
NM_001105247.2
p.G812delFs
c.2436delG
1 paper
NM_001105247.2
p.R811Q
c.2432G>A
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