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.I830delFs

c.2488_2489delAT

Surrounding Variants

1 paper

NM_000297.4

p.I830_S831insFs

c.2490_2491insT

1 paper

NM_000297.4

p.I830fs

c.2488_2489fs

1 paper

NM_000297.4

p.S831A

c.2491T>G

1 paper

NM_000297.4

p.S832insFs

c.2494_2495insC

1 paper

NM_000297.4

p.S832G

c.2494A>G

1 paper

NM_000297.4

p.R827_G828insG

c.2479_2483ins3

1 paper

NM_000297.4

p.S832T

c.2495G>C

1 paper

NM_000297.4

p.R826W

c.2476A>T

1 paper

NM_000297.4

p.G833G

c.2499C>T

1 paper

NM_000297.4

p.S824insFs

c.2470_2471insG

1 paper

NM_000297.4

p.S824delFs

c.2470delT

2 papers

NM_000297.4

p.Y836insFs

c.2507dupA