Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.A306_L318del13

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
2 papers
NM_001105247.2
p.A306_L318del13
c.916_953del39
Surrounding Variants
2 papers
NM_001105247.2
p.A306T
c.916G>A
1 paper
NM_001105247.2
p.L305fs
c.913_914fs
2 papers
NM_001105247.2
p.L305delFs
c.913delC
1 paper
NM_001105247.2
p.L303L
c.909G>C
1 paper
NM_001105247.2
p.G300*
c.898G>T
1 paper
NM_001105247.2
p.R298H
c.893G>A
3 papers
NM_001105247.2
p.R315_P316insG
c.943_947ins3
11 papers
NM_001105247.2
p.R315W
c.943C>T
4 papers
NM_001105247.2
p.R315Q
c.944G>A
7 papers
NM_001105247.2
p.A296fs
c.886_887fs
1 paper
NM_001105247.2
p.P316S
c.946C>T
1 paper
NM_001105247.2
p.R295_A296delFs
c.885_886delGG
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