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

Selected Variant

2 papers

NM_016112.3

p.S68insFs

c.203_204insC

Surrounding Variants

1 paper

NM_016112.3

p.C70*

c.210C>A

2 papers

NM_016112.3

p.G76C

c.226G>T

1 paper

NM_016112.3

p.G79Splc

c.235+1G>A

1 paper

NM_016112.3

p.Q49*

c.145C>T

1 paper

NM_016112.3

p.L46F

c.136C>T

1 paper

NM_016112.3

p.S41A

c.121T>G

1 paper

NM_016112.3

p.T39A

c.115A>G

1 paper

NM_016112.3

p.V37A

c.110T>C

1 paper

NM_016112.3

p.R36_V37ins6

c.106_110ins18

1 paper

NM_016112.3

p.P23H

c.68C>A

1 paper

NM_016112.3

p.D21E

c.63C>G

1 paper

NM_016112.3

p.D21E

c.63C>A