Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.E848*

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.E848*
c.2542G>T
Surrounding Variants
1 paper
NM_001301820.1
p.L879L
c.2635C>T
2 papers
NM_001105247.2
p.F842Y
c.2525T>A
1 paper
NM_001105247.2
p.F842S
c.2525T>C
2 papers
NM_001105247.2
p.R841H
c.2522G>A
5 papers
NM_001105247.2
p.V855delFs
c.2564delT
5 papers
NM_001105247.2
p.V855fs
c.2563_2564fs
1 paper
NM_001105247.2
p.A838P
c.2512G>C
2 papers
NM_001105247.2
p.P866L
c.2597C>T
2 papers
NM_001105247.2
p.G829D
c.2486G>A
5 papers
NM_001105247.2
p.E867*
c.2599G>T
1 paper
NM_001105247.2
p.S868A
c.2602T>G
2 papers
NM_001105247.2
p.S868_V869delFs
c.2604_2607del4
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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."