Varaico: Literature-Extracted Genetic Variants

Gene:PKD2L2

PKD2L2

38 papers

Pfam Domains

Polycystin_domaa 77–272UCSCPolycystin domain
PKD_channelaa 273–497UCSCPolycystin cation channel

Gene Aliases

HGNC Name

polycystin 2 like 2, transient receptor potential cation channel

HGNC Alias Symbol

TRPP5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
3 papers
NM_001300921.2
p.E163A
c.488A>C
2 papers
NM_001300921.2
p.C43Y
c.128G>A
1 paper
NM_001300921.2
p.G10S
c.28G>A
1 paper
NM_001300921.2
p.I40R
c.119T>G
1 paper
NM_001300921.2
p.T68insFs
c.203_204insC
1 paper
NM_001300921.2
p.G72D
c.215G>A
1 paper
NM_001300921.2
p.I84delFs
c.252delA
1 paper
NM_001300921.2
p.Q108K
c.322C>A
1 paper
NM_001300921.2
p.R118L
c.353G>T
1 paper
NM_001300921.2
p.N139K
c.417C>A
1 paper
NM_001300921.2
p.N139K
c.417C>G
1 paper
NM_001300921.2
p.E163V
c.488A>T
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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."