Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.R315Q

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
4 papers
NM_001105247.2
p.R315Q
c.944G>A
Surrounding Variants
3 papers
NM_001105247.2
p.R315_P316insG
c.943_947ins3
11 papers
NM_001105247.2
p.R315W
c.943C>T
1 paper
NM_001105247.2
p.P316S
c.946C>T
4 papers
NM_001105247.2
p.L318V
c.952C>G
1 paper
NM_001105247.2
p.G319_N320del2
c.955_959del6
7 papers
NM_001105247.2
p.G323_V324insC
c.967_971ins3
3 papers
NM_001105247.2
p.G323D
c.968G>A
8 papers
NM_001105247.2
p.G323A
c.968G>C
1 paper
NM_001105247.2
p.G323G
c.969C>T
2 papers
NM_001105247.2
p.A306T
c.916G>A
2 papers
NM_001105247.2
p.A306_L318del13
c.916_953del39
1 paper
NM_001105247.2
p.L305fs
c.913_914fs
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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."