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.I383_Y386del4

c.1147_1157del12

Surrounding Variants

2 papers

NM_000297.4

p.A384P

c.1150G>C

1 paper

NM_000297.4

p.G381V

c.1142G>T

1 paper

NM_000297.4

p.G381R

c.1141G>A

1 paper

NM_000297.4

p.G381_I382insATC

c.1141_1145ins9

9 papers

NM_000297.4

p.W380*

c.1140G>A

9 papers

NM_000297.4

p.W380*

c.1139G>A

1 paper

NM_000297.4

p.G381delFs

c.1142delG

1 paper

NM_000297.4

p.W380fs

c.1138_1139fs

1 paper

NM_000297.4

p.G381delFs

c.1141_1142delGG

1 paper

NM_000297.4

p.H379R

c.1136A>G

1 paper

NM_000297.4

p.H379insFs

c.1135_1136dupCA

10 papers

NM_000297.4

p.Y386*

c.1158T>A