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.R730W

c.2188C>T

Surrounding Variants

1 paper

NM_000297.4

p.G732_K735delFs

c.2195_2205del11

2 papers

NM_000297.4

p.R730Q

c.2189G>A

1 paper

NM_000297.4

p.L729L

c.2187G>A

3 papers

NM_000297.4

p.L729Q

c.2186T>A

2 papers

NM_000297.4

p.Q731*

c.2191C>T

3 papers

NM_000297.4

p.L729fs

c.2185_2186fs

1 paper

NM_000297.4

p.L729delFs

c.2185_2186delCT

1 paper

NM_000297.4

p.G733*

c.2197G>T

3 papers

NM_000297.4

p.S728delFs

c.2182_2183delAG

1 paper

NM_000297.4

p.K735*

c.2203A>T

3 papers

NM_000297.4

p.L736delFs

c.2207delT

5 papers

NM_000297.4

p.L736_F738del0

c.2208_2213del6