Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.Q345*

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
3 papers
NM_001105247.2
p.Q345*
c.1033C>T
Surrounding Variants
2 papers
NM_001105247.2
p.P347_R350delFs
c.1039_1049del11
3 papers
NM_001105247.2
p.L348delFs
c.1042delC
1 paper
NM_001105247.2
p.P347_R357del11
c.1039_1070del33
3 papers
NM_001105247.2
p.P347S
c.1039C>T
2 papers
NM_001105247.2
p.P347fs
c.1039_1040fs
1 paper
NM_001301820.1
p.T375delFs
c.1123delA
4 papers
NM_001105247.2
p.L348fs
c.1042_1043fs
1 paper
NM_001105247.2
p.S341R
c.1023C>A
1 paper
NM_001105247.2
p.S341R
c.1023C>G
1 paper
NM_001105247.2
p.S341R
c.1021A>C
1 paper
NM_001105247.2
p.G339E
c.1016G>A
1 paper
NM_001105247.2
p.C353_I360delFs
c.1058_1080del23
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