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.C360F

c.1079G>T

Surrounding Variants

1 paper

NM_016112.3

p.F364L

c.1090T>C

1 paper

NM_016112.3

p.E356D

c.1068G>T

1 paper

NM_016112.3

p.E356D

c.1068G>C

1 paper

NM_016112.3

p.F364L

c.1092C>G

1 paper

NM_016112.3

p.F364L

c.1092C>A

1 paper

NM_016112.3

p.E370K

c.1108G>A

1 paper

NM_016112.3

p.I371I

c.1113C>A

2 papers

NM_016112.3

p.R343C

c.1027C>T

1 paper

NM_016112.3

p.R378W

c.1132C>T

1 paper

NM_016112.3

p.R337C

c.1009C>T

1 paper

NM_016112.3

p.W334*

c.1002G>A

1 paper

NM_016112.3

p.W334*

c.1001G>A