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.Q405H

c.1215A>C

Surrounding Variants

1 paper

NM_000297.4

p.V406delFs

c.1217delT

9 papers

NM_000297.4

p.Q405*

c.1213C>T

1 paper

NM_000297.4

p.A404G

c.1211C>G

2 papers

NM_000297.4

p.A404V

c.1211C>T

1 paper

NM_000297.4

p.T402I

c.1205C>T

1 paper

NM_000297.4

p.L409F

c.1225C>T

1 paper

NM_000297.4

p.L409fs

c.1225_1226fs

1 paper

NM_000297.4

p.A403_A404del2

c.1207_1211del6

1 paper

NM_000297.4

p.K410_W414insFs

c.1229_1241dup13

1 paper

NM_000297.4

p.E401insFs

c.1202_1203insCT

1 paper

NM_000297.4

p.E401_T402insG

c.1201_1205ins3

1 paper

NM_000297.4

p.N412insFs

c.1235dupA