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.E101G

c.302A>G

Surrounding Variants

1 paper

NM_000297.4

p.E101*

c.301G>T

3 papers

NM_000297.4

p.V103delFs

c.307delG

1 paper

NM_000297.4

p.E100K

c.298G>A

1 paper

NM_000297.4

p.E100*

c.298G>T

1 paper

NM_000297.4

p.V103fs

c.307_308fs

3 papers

NM_000297.4

p.E99*

c.295G>T

1 paper

NM_000297.4

p.E106delFs

c.316delG

2 papers

NM_000297.4

p.G105R

c.313G>A

2 papers

NM_000297.4

p.E102_V103ins0

c.305_307dupAGG

3 papers

NM_000297.4

p.E102del1

c.304_305delGAG

1 paper

NM_000297.4

p.E107D

c.321A>T

2 papers

NM_000297.4

p.E95*

c.283G>T