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

1–12 of 72 variants

7 papers

NM_181536.2

p.Q1231_T1232delFs

c.3691_3694del4

6 papers

NM_181536.2

p.R789*

c.2365C>T

4 papers

NM_181536.2

p.V593M

c.1777G>A

4 papers

NM_181536.2

p.S1176R

c.3526A>C

4 papers

NM_181536.2

p.S1176R

c.3528C>G

4 papers

NM_181536.2

p.S1176R

c.3528C>A

3 papers

NM_181536.2

p.T429S

c.1285A>T

3 papers

NM_181536.2

p.T429S

c.1286C>G

3 papers

NM_181536.2

p.H571Q

c.1713C>G

3 papers

NM_181536.2

p.H571Q

c.1713C>A

3 papers

NM_181536.2

p.T1232fs

c.3694_3695fs

2 papers

NM_181536.2

p.K274E

c.820A>G