Varaico: Literature-Extracted Genetic Variants

PKD1L3

59 papers

RefSeq Summary

This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipo...

Pfam Domains

Lectin_Caa 40–139UCSCLectin C-type domain

GPSaa 633–674UCSCGPCR proteolysis site, GPS, motif

PLATaa 745–859UCSCPLAT/LH2 domain

PKD_channelaa 1458–1680UCSCPolycystin cation channel

Gene Aliases

HGNC Name

polycystin 1 like 3, transient receptor potential channel interacting

HGNC Previous Name

polycystic kidney disease 1-like 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181536.2

p.S43T

c.128G>C

Surrounding Variants

1 paper

NM_181536.2

p.S43I

c.128G>T

1 paper

NM_181536.2

p.M1insFs

c.1_2ins4

1 paper

NM_181536.2

p.K91Q

c.271A>C

1 paper

NM_181536.2

p.Q93*

c.277C>T

1 paper

NM_181536.2

p.K128_L130delFs

c.383_390del8

1 paper

NM_181536.2

p.K128_L131del0

c.383_391del9

1 paper

NM_181536.2

p.R151G

c.451A>G

1 paper

NM_181536.2

p.T165A

c.493A>G

1 paper

NM_181536.2

p.G179Splc

c.535+8G>A