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.P150L

c.449C>T

Surrounding Variants

2 papers

NM_000297.4

p.H149Y

c.445C>T

1 paper

NM_000297.4

p.R153K

c.458G>A

1 paper

NM_000297.4

p.A147delFs

c.439delG

1 paper

NM_000297.4

p.G146A

c.437G>C

1 paper

NM_000297.4

p.R154R

c.462G>A

1 paper

NM_000297.4

p.G146delFs

c.437delG

1 paper

NM_000297.4

p.Y144*

c.432C>A

1 paper

NM_000297.4

p.Y144*

c.432C>G

2 papers

NM_000297.4

p.Y144fs

c.430_431fs

1 paper

NM_000297.4

p.R157*

c.469C>T

1 paper

NM_000297.4

p.G143fs

c.427_428fs

3 papers

NM_000297.4

p.G143fs

c.427_428fs