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.S249L

c.746C>T

Surrounding Variants

2 papers

NM_016112.3

p.W245G

c.733T>G

1 paper

NM_016112.3

p.A244V

c.731C>T

1 paper

NM_016112.3

p.G267R

c.799G>C

1 paper

NM_016112.3

p.G267R

c.799G>A

1 paper

NM_016112.3

p.G268S

c.802G>A

1 paper

NM_016112.3

p.D273D

c.819C>T

1 paper

NM_016112.3

p.G276R

c.826G>C

1 paper

NM_016112.3

p.G276R

c.826G>A

1 paper

NM_016112.3

p.R278Q

c.833G>A

1 paper

NM_016112.3

p.R286W

c.856C>T

2 papers

NM_016112.3

p.G291R

c.871G>C

2 papers

NM_016112.3

p.G291R

c.871G>A