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.S330C

c.989C>G

Surrounding Variants

3 papers

NM_000297.4

p.S330delFs

c.990delC

11 papers

NM_000297.4

p.C331S

c.991T>A

1 paper

NM_000297.4

p.C331R

c.991T>C

1 paper

NM_000297.4

p.C331Y

c.992G>A

11 papers

NM_000297.4

p.C331S

c.992G>C

1 paper

NM_000297.4

p.N328del1

c.982_984delAAT

1 paper

NM_000297.4

p.Q335insFs

c.1003dupC

4 papers

NM_000297.4

p.R327*

c.979A>T

1 paper

NM_000297.4

p.I333Fs

c.999delinsAGAFs

1 paper

NM_000297.4

p.P334_R338del5

c.1000_1013del15

1 paper

NM_000297.4

p.P334T

c.1000C>A

1 paper

NM_000297.4

p.P334fs

c.1000_1001fs