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

4 papers

NM_000297.4

p.R327*

c.979A>T

Surrounding Variants

1 paper

NM_000297.4

p.R327delFs

c.979_980delAG

1 paper

NM_000297.4

p.N328del1

c.982_984delAAT

2 papers

NM_000297.4

p.V326G

c.977T>G

13 papers

NM_000297.4

p.R325Q

c.974G>A

6 papers

NM_000297.4

p.R325P

c.974G>C

15 papers

NM_000297.4

p.R325*

c.973C>T

6 papers

NM_000297.4

p.L324_R325insFs

c.972_973insC

3 papers

NM_000297.4

p.S330delFs

c.990delC

1 paper

NM_000297.4

p.S330C

c.989C>G

11 papers

NM_000297.4

p.C331S

c.991T>A

1 paper

NM_000297.4

p.C331R

c.991T>C

1 paper

NM_000297.4

p.C331Y

c.992G>A