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.L494L

c.1482C>T

Surrounding Variants

1 paper

NM_016112.3

p.G495S

c.1483G>A

1 paper

NM_016112.3

p.G495V

c.1484G>T

1 paper

NM_016112.3

p.G495A

c.1484G>C

1 paper

NM_016112.3

p.A492T

c.1474G>A

1 paper

NM_016112.3

p.Y491C

c.1472A>G

1 paper

NM_016112.3

p.G500A

c.1499G>C

1 paper

NM_016112.3

p.T501A

c.1501A>G

1 paper

NM_016112.3

p.V503A

c.1508T>C

1 paper

NM_016112.3

p.E504A

c.1511A>C

1 paper

NM_016112.3

p.T501_E504del0

c.1503_1511del9

1 paper

NM_016112.3

p.V482delFs

c.1445delA

1 paper

NM_016112.3

p.V482A

c.1445T>C