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

2 papers

NM_000297.4

p.G290R

c.868G>C

Surrounding Variants

2 papers

NM_000297.4

p.G290R

c.868G>A

1 paper

NM_000297.4

p.L291delFs

c.871delC

1 paper

NM_000297.4

p.L291fs

c.871_872fs

1 paper

NM_000297.4

p.L291P

c.872T>C

1 paper

NM_000297.4

p.D289_L291del3

c.865_872del9

4 papers

NM_000297.4

p.Y292C

c.875A>G

1 paper

NM_000297.4

p.L288delFs

c.862delT

4 papers

NM_000297.4

p.W293*

c.878G>A

1 paper

NM_000297.4

p.S286insFs

c.857_858insA

4 papers

NM_000297.4

p.W293*

c.879G>A

3 papers

NM_000297.4

p.S286delFs

c.858delC

1 paper

NM_000297.4

p.S286_L288delFs

c.856_862del7