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.P75delFs

c.224delC

Surrounding Variants

1 paper

NM_000297.4

p.S74fs

c.220_221fs

1 paper

NM_000297.4

p.S74F

c.221C>T

1 paper

NM_000297.4

p.P75fs

c.223_224fs

1 paper

NM_000297.4

p.A73T

c.217G>A

1 paper

NM_000297.4

p.P75L

c.224C>T

1 paper

NM_000297.4

p.A72_A73insFs

c.216_217insA

2 papers

NM_000297.4

p.S76A

c.226T>G

1 paper

NM_000297.4

p.P77insFs

c.230dupC

1 paper

NM_000297.4

p.P77S

c.229C>T

1 paper

NM_000297.4

p.A71delFs

c.213delC

1 paper

NM_000297.4

p.P77L

c.230C>T

1 paper

NM_000297.4

p.P77_P78insFs

c.231_232insC