Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.Q163*

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.Q163*
c.487C>T
Surrounding Variants
3 papers
NM_001105247.2
p.C164_M165insG
c.490_494ins3
1 paper
NM_001105247.2
p.M165_K166insG
c.493_497ins3
3 papers
NM_001105247.2
p.V159Splc
c.476-1G>A
6 papers
NM_001105247.2
p.V159Splc
c.476-1G>C
2 papers
NM_001105247.2
p.V159Splc
c.476-2A>G
1 paper
NM_001105247.2
p.I170_Q171insG
c.508_512ins3
13 papers
NM_001105247.2
p.I170V
c.508A>G
1 paper
NM_001105247.2
p.N172_R173insA
c.514_518ins3
7 papers
NM_001105247.2
p.R173*
c.517C>T
5 papers
NM_001105247.2
p.A175delFs
c.523delG
5 papers
NM_001105247.2
p.A175fs
c.523_524fs
1 paper
NM_001105247.2
p.R176C
c.526C>T
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