Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.L283_L289del7

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.L283_L289del7
c.847_866del21
Surrounding Variants
1 paper
NM_001105247.2
p.L283_L286del4
c.847_857del12
1 paper
NM_001288767.2
p.G375delFs
c.1123delG
1 paper
NM_001105247.2
p.L286L
c.858C>T
3 papers
NM_001105247.2
p.A290_K294del5
c.868_881del15
1 paper
NM_001105247.2
p.Q276_S288del13
c.826_863del39
1 paper
NM_001105247.2
p.K294*
c.880A>T
1 paper
NM_001105247.2
p.R271Q
c.812G>A
1 paper
NM_001105247.2
p.R295_A296delFs
c.885_886delGG
3 papers
NM_001105247.2
p.C269*
c.807C>A
7 papers
NM_001105247.2
p.A296fs
c.886_887fs
17 papers
NM_001288767.2
p.R362*
c.1084C>T
NM_001105247.2
p.R267*
c.799C>T
1 paper
NM_001105247.2
p.R298H
c.893G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."