Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.L715delFs

PKD2

834 papers

RefSeq Summary

This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium trans...

Pfam Domains

Polycystin_domaa 269–463UCSCPolycystin domain
PKD_channelaa 464–687UCSCPolycystin cation channel
Fer4_24aa 834–868UCSCFerredoxin I 4Fe-4S cluster domain

Gene Aliases

HGNC Name

polycystin 2, transient receptor potential cation channel

HGNC Alias Symbols

PKD4; PC2; Pc-2; TRPP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000297.4
p.L715delFs
c.2143delC
Surrounding Variants
1 paper
NM_000297.4
p.K714E
c.2140A>G
2 papers
NM_000297.4
p.K714delFs
c.2142delA
1 paper
NM_000297.4
p.L717fs
c.2149_2150fs
1 paper
NM_000297.4
p.V713delFs
c.2137delG
3 papers
NM_000297.4
p.L717delFs
c.2151delG
16 papers
NM_000297.4
p.N720insFs
c.2159dupA
17 papers
NM_000297.4
p.N720delFs
c.2159delA
7 papers
NM_000297.4
p.N720fs
c.2158_2159fs
1 paper
NM_000297.4
p.N720Y
c.2158A>T
10 papers
NM_000297.4
p.N720fs
c.2158_2159fs
1 paper
NM_000297.4
p.H709Y
c.2125C>T
1 paper
NM_000297.4
p.T721insFs
c.2163dupC
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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."