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.G32R

c.94G>C

Surrounding Variants

1 paper

NM_000297.4

p.G32S

c.94G>A

2 papers

NM_000297.4

p.A31V

c.92C>T

1 paper

NM_000297.4

p.C33S

c.97T>A

1 paper

NM_000297.4

p.M30I

c.90G>C

1 paper

NM_000297.4

p.C33S

c.98G>C

1 paper

NM_000297.4

p.C33delFs

c.99delC

1 paper

NM_000297.4

p.C33*

c.99C>A

2 papers

NM_000297.4

p.A35T

c.103G>A

1 paper

NM_000297.4

p.A35delins

c.103_104delinsAA

1 paper

NM_000297.4

p.A35D

c.104C>A

24 papers

NM_000297.4

p.R28P

c.83G>C

1 paper

NM_000297.4

p.R28fs

c.82_83fs