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.A1443ins4

c.4328_4329ins12

Surrounding Variants

1 paper

NM_181536.2

p.W1568R

c.4702T>C

1 paper

NM_181536.2

p.W1568R

c.4702T>A

2 papers

NM_181536.2

p.R1572H

c.4715G>A

1 paper

NM_181536.2

p.S1574T

c.4721G>C

1 paper

NM_181536.2

p.L1383L

c.4147C>T

1 paper

NM_181536.2

p.K1377E

c.4129A>G

1 paper

NM_181536.2

p.S1319L

c.3956C>T