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.H498D

c.1492C>G

Surrounding Variants

1 paper

NM_000297.4

p.H498_R504insFs

c.1492_1510dup19

1 paper

NM_000297.4

p.I497N

c.1490T>A

1 paper

NM_000297.4

p.R496C

c.1486C>T

12 papers

NM_000297.4

p.E494*

c.1480G>T

2 papers

NM_000297.4

p.Y502insFs

c.1505_1506insT

2 papers

NM_000297.4

p.Y502C

c.1505A>G

1 paper

NM_000297.4

p.Y502F

c.1505A>T

1 paper

NM_000297.4

p.L493fs

c.1477_1478fs

2 papers

NM_000297.4

p.I492T

c.1475T>C

1 paper

NM_000297.4

p.I492_L493delFs

c.1476_1477delAT

2 papers

NM_000297.4

p.E490K

c.1468G>A

1 paper

NM_000297.4

p.V489insFs

c.1466_1467insG