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

1 paper

NM_016112.3

p.A443D

c.1328C>A

Surrounding Variants

1 paper

NM_016112.3

p.N440del1

c.1318_1319delGTT

1 paper

NM_016112.3

p.Y438C

c.1313A>G

2 papers

NM_016112.3

p.A449T

c.1345G>A

1 paper

NM_016112.3

p.I451M

c.1353C>G

2 papers

NM_016112.3

p.K452Q

c.1354A>C

3 papers

NM_016112.3

p.R407*

c.1219C>T

1 paper

NM_016112.3

p.V401G

c.1202T>G

1 paper

NM_016112.3

p.K452_I453Splc

c.1356+138G>A

2 papers

NM_016112.3

p.V393I

c.1177G>A

1 paper

NM_016112.3

p.V392M

c.1174G>A

1 paper

NM_016112.3

p.D390V

c.1169A>T

1 paper

NM_016112.3

p.R378W

c.1132C>T