Varaico: Literature-Extracted Genetic Variants

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

24 papers

NM_000297.4

p.R322W

c.964C>T

Surrounding Variants

2 papers

NM_000297.4

p.R322G

c.964C>G

33 papers

NM_000297.4

p.R322Q

c.965G>A

1 paper

NM_000297.4

p.R320Q

c.959G>A

1 paper

NM_000297.4

p.R320P

c.959G>C

1 paper

NM_000297.4

p.R320L

c.959G>T

2 papers

NM_000297.4

p.R320R

c.958C>A

22 papers

NM_000297.4

p.R320*

c.958C>T

6 papers

NM_000297.4

p.L324_R325insFs

c.972_973insC

1 paper

NM_000297.4

p.P319L

c.956C>T

15 papers

NM_000297.4

p.R325*

c.973C>T

13 papers

NM_000297.4

p.R325Q

c.974G>A

6 papers

NM_000297.4

p.R325P

c.974G>C