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

3 papers

NM_181536.2

p.T429S

c.1286C>G

Surrounding Variants

3 papers

NM_181536.2

p.T429S

c.1285A>T

1 paper

NM_181536.2

p.R424Splc

c.1272-1G>A

1 paper

NM_181536.2

p.E398K

c.1192G>A

1 paper

NM_181536.2

p.N395N

c.1185T>C

1 paper

NM_181536.2

p.E383_V391del9

c.1147_1172del27

1 paper

NM_181536.2

p.E383_L390del8

c.1147_1169del24

1 paper

NM_181536.2

p.A471D

c.1412C>A

1 paper

NM_181536.2

p.T365I

c.1094C>T

1 paper

NM_181536.2

p.L545F

c.1635G>T

1 paper

NM_181536.2

p.L545F

c.1635G>C

1 paper

NM_181536.2

p.L555V

c.1663C>G

3 papers

NM_181536.2

p.H571Q

c.1713C>G