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.C47S

c.140G>C

Surrounding Variants

1 paper

NM_000297.4

p.E48delFs

c.142delG

1 paper

NM_000297.4

p.C47S

c.139T>A

1 paper

NM_000297.4

p.Q49*

c.145C>T

1 paper

NM_000297.4

p.G45D

c.134G>A

1 paper

NM_000297.4

p.R50Q

c.149G>A

2 papers

NM_000297.4

p.R50P

c.149G>C

1 paper

NM_000297.4

p.G51A

c.152G>C

1 paper

NM_000297.4

p.G51V

c.152G>T

1 paper

NM_000297.4

p.P43fs

c.127_128fs

2 papers

NM_000297.4

p.L52M

c.154C>A

1 paper

NM_000297.4

p.A42T

c.124G>A

1 paper

NM_000297.4

p.A42fs

c.124_125fs