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.E444D

c.1332A>C

Surrounding Variants

2 papers

NM_000297.4

p.E444A

c.1331A>C

1 paper

NM_000297.4

p.E444G

c.1331A>G

1 paper

NM_000297.4

p.E444K

c.1330G>A

1 paper

NM_000297.4

p.V443D

c.1328T>A

3 papers

NM_000297.4

p.P446L

c.1337C>T

5 papers

NM_000297.4

p.G449insFs

c.1345_1346ins7

1 paper

NM_000297.4

p.A447delFs

c.1339delG

1 paper

NM_000297.4

p.A447_G449delFs

c.1340_1346del7

1 paper

NM_000297.4

p.L442fs

c.1324_1325fs

2 papers

NM_000297.4

p.L442delFs

c.1325delT

5 papers

NM_000297.4

p.T448K

c.1343C>A

1 paper

NM_000297.4

p.L441fs

c.1321_1322fs