Varaico: Literature-Extracted Genetic Variants

Gene:PKD2L2
Variant:p.L322P

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
Selected Variant
1 paper
NM_001300921.2
p.L322P
c.965T>C
Surrounding Variants
1 paper
NM_001300921.2
p.V301V
c.903C>A
1 paper
NM_001300921.2
p.S284F
c.851C>T
1 paper
NM_001300921.2
p.F281S
c.842T>C
1 paper
NM_001300921.2
p.L343_L344delFs
c.1029_1032del4
1 paper
NM_001300921.2
p.L345fs
c.1033_1034fs
1 paper
NM_001300921.2
p.Y355N
c.1063T>A
1 paper
NM_001300921.2
p.F377I
c.1129T>A
1 paper
NM_001300921.2
p.G409E
c.1226G>A
1 paper
NM_001300921.2
p.F410L
c.1228T>C
1 paper
NM_001300921.2
p.F410L
c.1230T>A
1 paper
NM_001300921.2
p.F410L
c.1230T>G
1 paper
NM_001300921.2
p.F419L
c.1255T>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."