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

3 papers

NM_000297.4

p.L180_P185insFs

c.540_555dup16

Surrounding Variants

5 papers

NM_000297.4

p.L180insFs

c.538_539insC

1 paper

NM_000297.4

p.Q183*

c.547C>T

1 paper

NM_000297.4

p.H175_R176insFs

c.525_526ins7

11 papers

NM_000297.4

p.R186*

c.556C>T

3 papers

NM_000297.4

p.R186fs

c.556_557fs

1 paper

NM_000297.4

p.R186R

c.558A>C

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

1 paper

NM_000297.4

p.D172E

c.516C>G

1 paper

NM_000297.4

p.D172H

c.514G>C

1 paper

NM_000297.4

p.D172fs

c.514_515fs