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

1 paper

NM_000297.4

p.V318D

c.953T>A

Surrounding Variants

2 papers

NM_000297.4

p.V318fs

c.952_953fs

1 paper

NM_000297.4

p.P319L

c.956C>T

2 papers

NM_000297.4

p.G317E

c.950G>A

2 papers

NM_000297.4

p.G317W

c.949G>T

2 papers

NM_000297.4

p.L316Fs

c.948delinsAGFs

2 papers

NM_000297.4

p.R320R

c.958C>A

22 papers

NM_000297.4

p.R320*

c.958C>T

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.R322G

c.964C>G

24 papers

NM_000297.4

p.R322W

c.964C>T