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

2 papers

NM_000297.4

p.Y502C

c.1505A>G

Surrounding Variants

2 papers

NM_000297.4

p.Y502insFs

c.1505_1506insT

1 paper

NM_000297.4

p.Y502F

c.1505A>T

1 paper

NM_000297.4

p.H498D

c.1492C>G

1 paper

NM_000297.4

p.H498_R504insFs

c.1492_1510dup19

3 papers

NM_000297.4

p.W507*

c.1520G>A

1 paper

NM_000297.4

p.I497N

c.1490T>A

4 papers

NM_000297.4

p.W507*

c.1521G>A

2 papers

NM_000297.4

p.N508S

c.1523A>G

1 paper

NM_000297.4

p.C509_L510delFs

c.1525_1529del5

1 paper

NM_000297.4

p.R496C

c.1486C>T

1 paper

NM_000297.4

p.C509S

c.1525T>A

1 paper

NM_000297.4

p.C509S

c.1526G>C