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.G108insFs

c.322_323insT

Surrounding Variants

1 paper

NM_000297.4

p.E107D

c.321A>T

1 paper

NM_000297.4

p.G109R

c.325G>A

1 paper

NM_000297.4

p.G109*

c.325G>T

1 paper

NM_000297.4

p.M110delFs

c.328delA

1 paper

NM_000297.4

p.G109G

c.327A>T

2 papers

NM_000297.4

p.G105R

c.313G>A

1 paper

NM_000297.4

p.E106delFs

c.316delG

1 paper

NM_000297.4

p.V112_E113del2

c.334_338del6

1 paper

NM_000297.4

p.V112_E113delFs

c.334_338del5

1 paper

NM_000297.4

p.V112delFs

c.335delT

1 paper

NM_000297.4

p.V112fs

c.334_335fs

1 paper

NM_000297.4

p.V103fs

c.307_308fs