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.R186R

c.558A>C

Surrounding Variants

1 paper

NM_000297.4

p.R186R

c.558A>G

1 paper

NM_000297.4

p.R186R

c.558A>T

1 paper

NM_000297.4

p.V187M

c.559G>A

11 papers

NM_000297.4

p.R186*

c.556C>T

3 papers

NM_000297.4

p.R186fs

c.556_557fs

3 papers

NM_000297.4

p.W189*

c.566G>A

4 papers

NM_000297.4

p.W189*

c.567G>A

14 papers

NM_000297.4

p.A190T

c.568G>A

1 paper

NM_000297.4

p.Q183*

c.547C>T

1 paper

NM_000297.4

p.E191D

c.573G>C

3 papers

NM_000297.4

p.L180_P185insFs

c.540_555dup16

1 paper

NM_000297.4

p.V194I

c.580G>A