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.Q8insFs

c.23_24insG

Surrounding Variants

1 paper

NM_000297.4

p.Q8L

c.23A>T

3 papers

NM_000297.4

p.Q8*

c.22C>T

1 paper

NM_000297.4

p.P9insFs

c.25_26dupCC

2 papers

NM_000297.4

p.P9A

c.25C>G

2 papers

NM_000297.4

p.V7A

c.20T>C

1 paper

NM_000297.4

p.R6R

c.18C>G

2 papers

NM_000297.4

p.Q10*

c.28C>T

1 paper

NM_000297.4

p.Q10_K16del0

c.29_46del18

3 papers

NM_000297.4

p.V7delFs

c.19delG

1 paper

NM_000297.4

p.Q10R

c.29A>G

2 papers

NM_000297.4

p.R6H

c.17G>A

1 paper

NM_000297.4

p.R6insFs

c.17_18insG