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.E1007A

c.3020A>C

Surrounding Variants

1 paper

NM_181536.2

p.L996F

c.2986C>T

1 paper

NM_181536.2

p.A991T

c.2971G>A

1 paper

NM_181536.2

p.P969P

c.2907G>A

1 paper

NM_181536.2

p.V963L

c.2887G>C

1 paper

NM_181536.2

p.W944insFs

c.2830_2831insC

1 paper

NM_181536.2

p.L1102Q

c.3305T>A

1 paper

NM_181536.2

p.S1168*

c.3503C>G

1 paper

NM_181536.2

p.S1168*

c.3503C>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

1 paper

NM_181536.2

p.V903I

c.2707G>A