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.T669S

c.2006C>G

Surrounding Variants

1 paper

NM_181536.2

p.T669S

c.2005A>T

1 paper

NM_181536.2

p.V678M

c.2032G>A

1 paper

NM_181536.2

p.T681T

c.2043C>T

1 paper

NM_181536.2

p.L708del1

c.2122_2123delTAA

1 paper

NM_181536.2

p.S770*

c.2309C>G

1 paper

NM_181536.2

p.S770*

c.2309C>A

1 paper

NM_181536.2

p.G772*

c.2314G>T

1 paper

NM_181536.2

p.G772G

c.2316A>G

6 papers

NM_181536.2

p.R789*

c.2365C>T

1 paper

NM_181536.2

p.R789Q

c.2366G>A

2 papers

NM_181536.2

p.A631T

c.1891G>A

4 papers

NM_181536.2

p.V593M

c.1777G>A