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.I424T

c.1271T>C

Surrounding Variants

1 paper

NM_000297.4

p.I424S

c.1271T>G

1 paper

NM_000297.4

p.T422_F423delFs

c.1266_1267delTT

1 paper

NM_000297.4

p.F423_I424del2

c.1267_1271del6

1 paper

NM_000297.4

p.A421E

c.1262C>A

1 paper

NM_000297.4

p.A421T

c.1261G>A

8 papers

NM_000297.4

p.R420G

c.1258A>G

3 papers

NM_000297.4

p.T419A

c.1255A>G

3 papers

NM_000297.4

p.Y429*

c.1287C>A

3 papers

NM_000297.4

p.Y429*

c.1287C>G

2 papers

NM_000297.4

p.N430D

c.1288A>G

2 papers

NM_000297.4

p.N430S

c.1289A>G

2 papers

NM_000297.4

p.G418V

c.1253G>T