Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.W386*

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
7 papers
NM_001105247.2
p.W386*
c.1157G>A
Surrounding Variants
7 papers
NM_001105247.2
p.W386*
c.1158G>A
2 papers
NM_001105247.2
p.A392delFs
c.1174delG
2 papers
NM_001105247.2
p.A392fs
c.1174_1175fs
5 papers
NM_001105247.2
p.L394P
c.1181T>C
2 papers
NM_001105247.2
p.M375fs
c.1123_1124fs
2 papers
NM_001105247.2
p.M375delFs
c.1123delA
5 papers
NM_001105247.2
p.G405delFs
c.1214delG
5 papers
NM_001105247.2
p.G405fs
c.1213_1214fs
1 paper
NM_001105247.2
p.R406W
c.1216C>T
1 paper
NM_001105247.2
p.R406Q
c.1217G>A
NM_001288767.2
p.R501Q
c.1502G>A
9 papers
NM_001105247.2
p.L365P
c.1094T>C
3 papers
NM_001105247.2
p.Q408*
c.1222C>T
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