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

2 papers

NM_181536.2

p.T1232fs

c.3694_3695fs

Surrounding Variants

3 papers

NM_181536.2

p.T1232fs

c.3694_3695fs

2 papers

NM_181536.2

p.T1232insFs

c.3695_3696ins4

7 papers

NM_181536.2

p.Q1231_T1232delFs

c.3691_3694del4

4 papers

NM_181536.2

p.S1176R

c.3528C>G

4 papers

NM_181536.2

p.S1176R

c.3528C>A

4 papers

NM_181536.2

p.S1176R

c.3526A>C

1 paper

NM_181536.2

p.S1168*

c.3503C>G

1 paper

NM_181536.2

p.S1168*

c.3503C>A

1 paper

NM_181536.2

p.L1102Q

c.3305T>A

2 papers

NM_181536.2

p.E1007A

c.3020A>C

1 paper

NM_181536.2

p.S1319L

c.3956C>T

1 paper

NM_181536.2

p.K1377E

c.4129A>G