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.F436fs

c.1306_1307fs

Surrounding Variants

2 papers

NM_000297.4

p.F436L

c.1306T>C

2 papers

NM_000297.4

p.L435M

c.1303C>A

1 paper

NM_000297.4

p.C437S

c.1309T>A

1 paper

NM_000297.4

p.F436_C437delFs

c.1307_1311del5

2 papers

NM_000297.4

p.C437Y

c.1310G>A

1 paper

NM_000297.4

p.C437S

c.1310G>C

1 paper

NM_000297.4

p.C437W

c.1311T>G

1 paper

NM_000297.4

p.R440T

c.1319G>C

15 papers

NM_000297.4

p.R440Splc

c.1319+1G>A

8 papers

NM_000297.4

p.R440S

c.1320G>C

9 papers

NM_000297.4

p.R440S

c.1320G>T

3 papers

NM_000297.4

p.R440Splc

c.1319+2T>C