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.L40delFs

c.118delC

Surrounding Variants

1 paper

NM_000297.4

p.A38A

c.114C>T

1 paper

NM_000297.4

p.A41T

c.121G>A

1 paper

NM_000297.4

p.A41P

c.121G>C

1 paper

NM_000297.4

p.A41G

c.122C>G

1 paper

NM_000297.4

p.G37C

c.109G>T

1 paper

NM_000297.4

p.A38delFs

c.112_113delGC

1 paper

NM_000297.4

p.A42T

c.124G>A

1 paper

NM_000297.4

p.A42fs

c.124_125fs

4 papers

NM_000297.4

p.P43delFs

c.128delC

1 paper

NM_000297.4

p.V36L

c.106G>T

1 paper

NM_000297.4

p.P43fs

c.127_128fs

1 paper

NM_000297.4

p.A35D

c.104C>A