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

4 papers

NM_016112.3

p.T543A

c.1627A>G

Surrounding Variants

1 paper

NM_016112.3

p.V542A

c.1625T>C

1 paper

NM_016112.3

p.F541V

c.1621T>G

1 paper

NM_016112.3

p.F547V

c.1639T>G

1 paper

NM_016112.3

p.V548I

c.1642G>A

1 paper

NM_016112.3

p.P538A

c.1612C>G

1 paper

NM_016112.3

p.G537A

c.1610G>C

2 papers

NM_016112.3

p.F549L

c.1645T>C

2 papers

NM_016112.3

p.F549I

c.1645T>A

2 papers

NM_016112.3

p.F549L

c.1647C>G

2 papers

NM_016112.3

p.F549L

c.1647C>A

1 paper

NM_016112.3

p.F550V

c.1648T>G

1 paper

NM_016112.3

p.V548_V551del0

c.1644_1652del9