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.G747Splc

c.2240+1G>A

Surrounding Variants

2 papers

NM_000297.4

p.G747Splc

c.2240+1G>C

3 papers

NM_000297.4

p.G747Splc

c.2240+1G>T

1 paper

NM_000297.4

p.K746R

c.2237A>G

1 paper

NM_000297.4

p.G747Splc

c.2240+5G>C

1 paper

NM_000297.4

p.K746E

c.2236A>G

3 papers

NM_000297.4

p.K746insFs

c.2236_2237insA

1 paper

NM_000297.4

p.L745L

c.2235C>G

1 paper

NM_000297.4

p.G747Splc

c.2240+10A>G

1 paper

NM_000297.4

p.Q743*

c.2227C>T

60 papers

NM_000297.4

p.R742*

c.2224C>T

1 paper

NM_000297.4

p.E740Q

c.2218G>C

2 papers

NM_000297.4

p.D739G

c.2216A>G