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.L138*

c.413T>G

Surrounding Variants

2 papers

NM_016112.3

p.L138*

c.413T>A

1 paper

NM_016112.3

p.I151V

c.451A>G

1 paper

NM_016112.3

p.G120R

c.358G>C

1 paper

NM_016112.3

p.G120R

c.358G>A

1 paper

NM_016112.3

p.F157I

c.469T>A

1 paper

NM_016112.3

p.W158*

c.473G>A

1 paper

NM_016112.3

p.D159N

c.475G>A

1 paper

NM_016112.3

p.P164P

c.492A>T

1 paper

NM_016112.3

p.Y170N

c.508T>A

1 paper

NM_016112.3

p.W174*

c.522G>A

1 paper

NM_016112.3

p.I188N

c.563T>A

1 paper

NM_016112.3

p.E191E

c.573G>A