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.P759S

c.2275C>T

Surrounding Variants

1 paper

NM_016112.3

p.A788D

c.2363C>A

1 paper

NM_016112.3

p.E790*

c.2368G>T

1 paper

NM_016112.3

p.E790V

c.2369A>T

4 papers

NM_016112.3

p.R796H

c.2387G>A

1 paper

NM_016112.3

p.G749D

c.2246G>A

1 paper

NM_016112.3

p.M709Splc

c.2127-2A>G

1 paper

NM_016112.3

p.W701*

c.2103G>A

1 paper

NM_016112.3

p.W701*

c.2102G>A

1 paper

NM_016112.3

p.I683V

c.2047A>G

2 papers

NM_016112.3

p.R681L

c.2042G>T

1 paper

NM_016112.3

p.R681*

c.2041C>T

1 paper

NM_016112.3

p.E677K

c.2029G>A