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.L395insFs

c.1183dupT

Surrounding Variants

1 paper

NM_000297.4

p.D394H

c.1180G>C

1 paper

NM_000297.4

p.L395F

c.1185G>C

1 paper

NM_000297.4

p.L395F

c.1185G>T

1 paper

NM_000297.4

p.Y392D

c.1174T>G

1 paper

NM_000297.4

p.R397*

c.1189A>T

2 papers

NM_000297.4

p.Y391*

c.1173T>A

2 papers

NM_000297.4

p.Y391*

c.1173T>G

2 papers

NM_000297.4

p.Y391C

c.1172A>G

2 papers

NM_000297.4

p.Y391H

c.1171T>C

1 paper

NM_000297.4

p.Y391D

c.1171T>G

2 papers

NM_000297.4

p.T398delFs

c.1193delC

1 paper

NM_000297.4

p.T398fs

c.1192_1193fs