Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.F752F

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.F752F
c.2256C>T
Surrounding Variants
8 papers
NM_001105247.2
p.L754P
c.2261T>C
3 papers
NM_001105247.2
p.A743V
c.2228C>T
10 papers
NM_001105247.2
p.R764*
c.2290C>T
3 papers
NM_001105247.2
p.R764P
c.2291G>C
3 papers
NM_001105247.2
p.S767*
c.2300C>A
3 papers
NM_001105247.2
p.S767*
c.2300C>G
2 papers
NM_001105247.2
p.A768P
c.2302G>C
4 papers
NM_001105247.2
p.Y736S
c.2207A>C
1 paper
NM_001105247.2
p.Y736fs
c.2206_2207fs
1 paper
NM_001288767.2
p.C829Y
c.2486G>A
1 paper
NM_001105247.2
p.Y736_L739delFs
c.2207_2216del10
2 papers
NM_001288767.2
p.C829R
c.2485T>C
NM_001105247.2
p.C734R
c.2200T>C
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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."