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

8 papers

NM_000297.4

p.D886G

c.2657A>G

Surrounding Variants

1 paper

NM_000297.4

p.D886A

c.2657A>C

1 paper

NM_000297.4

p.R883R

c.2647A>C

3 papers

NM_000297.4

p.E890K

c.2668G>A

1 paper

NM_000297.4

p.E890*

c.2668G>T

3 papers

NM_000297.4

p.E890_D891Splc

c.2670+1G>A

1 paper

NM_000297.4

p.E890_D891Splc

c.2670+1G>C

1 paper

NM_000297.4

p.L881Q

c.2642T>A

1 paper

NM_000297.4

p.E890_D891Splc

c.2670+2T>G

2 papers

NM_000297.4

p.E890_D891Splc

c.2670+5G>A

1 paper

NM_000297.4

p.V880A

c.2639T>C

1 paper

NM_000297.4

p.V880L

c.2638G>C

1 paper

NM_000297.4

p.V880L

c.2638G>T