Varaico: Literature-Extracted Genetic Variants

PKD1

1,465 papers

RefSeq Summary

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is a...

Pfam Domains

LRR_8aa 69–127UCSCLeucine rich repeat

WSCaa 180–261UCSCWSC domain

PKDaa 274–352UCSCPKD domain

Lectin_Caa 425–532UCSCLectin C-type domain

PKDaa 934–1013UCSCPKD domain

PKDaa 1021–1122UCSCPKD domain

Gene Aliases

HGNC Name

polycystin 1, transient receptor potential channel interacting

HGNC Alias Symbols

PBP; Pc-1; TRPP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001009944.3

p.L1215V

c.3643C>G

Surrounding Variants

1 paper

NM_001009944.3

p.L1215R

c.3644T>G

1 paper

NM_001009944.3

p.L1215H

c.3644T>A

1 paper

NM_001009944.3

p.L1212R

c.3635T>G

1 paper

NM_001009944.3

p.D1218fs

c.3652_3653fs

1 paper

NM_001009944.3

p.D1218delFs

c.3653delT

1 paper

NM_001009944.3

p.M1219V

c.3655A>G

1 paper

NM_001009944.3

p.M1219K

c.3656T>A

1 paper

NM_001009944.3

p.M1219fs

c.3655_3656fs

1 paper

NM_001009944.3

p.E1210*

c.3628G>T

1 paper

NM_001009944.3

p.E1210K

c.3628G>A

3 papers

NM_001009944.3

p.V1208_F1209insFs

c.3624_3625ins4

1 paper

NM_001009944.3

p.D1205_V1208delFs

c.3613_3622del10