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.T398fs

c.1192_1193fs

Surrounding Variants

2 papers

NM_000297.4

p.T398delFs

c.1193delC

1 paper

NM_000297.4

p.T398K

c.1193C>A

1 paper

NM_000297.4

p.T398Fs

c.1193delinsAAFs

1 paper

NM_000297.4

p.E400delFs

c.1199_1200delAG

1 paper

NM_000297.4

p.R397*

c.1189A>T

1 paper

NM_000297.4

p.E400fs

c.1198_1199fs

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.E401_T402insG

c.1201_1205ins3

1 paper

NM_000297.4

p.E401insFs

c.1202_1203insCT

1 paper

NM_000297.4

p.L395insFs

c.1183dupT

1 paper

NM_000297.4

p.A403_A404del2

c.1207_1211del6