Varaico: Literature-Extracted Genetic Variants

PKD2L1

123 papers

RefSeq Summary

This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane prot...

Pfam Domains

Polycystin_domaa 147–342UCSCPolycystin domain

PKD_channelaa 343–567UCSCPolycystin cation channel

Fer4_24aa 702–736UCSCFerredoxin I 4Fe-4S cluster domain

Gene Aliases

HGNC Name

polycystin 2 like 1, transient receptor potential cation channel

HGNC Previous Symbol

PKDL

Papers

RefSeq ID

Protein change

DNA change

1–12 of 197 variants

4 papers

NM_016112.3

p.D525N

c.1573G>A

4 papers

NM_016112.3

p.T543A

c.1627A>G

4 papers

NM_016112.3

p.R796H

c.2387G>A

3 papers

NM_016112.3

p.R407*

c.1219C>T

2 papers

NM_016112.3

p.S68insFs

c.203_204insC

2 papers

NM_016112.3

p.G76C

c.226G>T

2 papers

NM_016112.3

p.L138*

c.413T>G

2 papers

NM_016112.3

p.L138*

c.413T>A

2 papers

NM_016112.3

p.R201W

c.601C>T

2 papers

NM_016112.3

p.R217W

c.649C>T

2 papers

NM_016112.3

p.W245G

c.733T>G

2 papers

NM_016112.3

p.G291R

c.871G>C