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.I59V

c.175A>G

Surrounding Variants

1 paper

NM_000297.4

p.I59F

c.175A>T

1 paper

NM_000297.4

p.R58H

c.173G>A

1 paper

NM_000297.4

p.R60_Q61delFs

c.180_181delGC

2 papers

NM_000297.4

p.R60R

c.180G>A

4 papers

NM_000297.4

p.Q61*

c.181C>T

1 paper

NM_000297.4

p.Q57*

c.169C>T

1 paper

NM_000297.4

p.Q61P

c.182A>C

1 paper

NM_000297.4

p.Q61R

c.182A>G

1 paper

NM_000297.4

p.Q57_I59delFs

c.171_175del5

1 paper

NM_000297.4

p.M56insFs

c.166_167ins7

1 paper

NM_000297.4

p.E55A

c.164A>C

2 papers

NM_000297.4

p.E55_Q57delFs

c.165_171del7