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.K874*

c.2620A>T

Surrounding Variants

1 paper

NM_000297.4

p.A873_K874insFs

c.2619_2620insC

2 papers

NM_000297.4

p.R872G

c.2614C>G

50 papers

NM_000297.4

p.R872*

c.2614C>T

1 paper

NM_000297.4

p.R878del1

c.2632_2633delAGG

2 papers

NM_000297.4

p.R877G

c.2629A>G

1 paper

NM_000297.4

p.E871*

c.2611G>T

1 paper

NM_000297.4

p.R877K

c.2630G>A

2 papers

NM_000297.4

p.R878G

c.2632A>G

1 paper

NM_000297.4

p.V880_R883delFs

c.2639_2649del11

1 paper

NM_000297.4

p.E879G

c.2636A>G

1 paper

NM_000297.4

p.V880L

c.2638G>C

1 paper

NM_000297.4

p.V880L

c.2638G>T