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.V134_R137delFs

c.401_410del10

Surrounding Variants

1 paper

NM_000297.4

p.S133fs

c.397_398fs

1 paper

NM_000297.4

p.V134fs

c.400_401fs

1 paper

NM_000297.4

p.S132I

c.395G>T

1 paper

NM_000297.4

p.V134insFs

c.401_402insG

1 paper

NM_000297.4

p.V134_A136insFs

c.402_406dup5

1 paper

NM_000297.4

p.G135delFs

c.403_404delGG

1 paper

NM_000297.4

p.V131ins1

c.391_392insTAT

2 papers

NM_000297.4

p.R137delFs

c.411delG

1 paper

NM_000297.4

p.S129W

c.386C>G

2 papers

NM_000297.4

p.S138fs

c.412_413fs

1 paper

NM_000297.4

p.R139_L141delFs

c.415_421del7

1 paper

NM_000297.4

p.S128_S129delFs

c.383_386del4