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

1 paper

NM_001009944.3

p.N1195fs

c.3583_3584fs

Surrounding Variants

1 paper

NM_001009944.3

p.N1195delFs

c.3584delT

2 papers

NM_001009944.3

p.T1196M

c.3587C>T

1 paper

NM_001009944.3

p.V1193delFs

c.3577delC

1 paper

NM_001009944.3

p.V1193_N1194insC

c.3577_3581ins3

1 paper

NM_001009944.3

p.V1193fs

c.3577_3578fs

1 paper

NM_001009944.3

p.V1197_S1198insFs

c.3591_3592insTG

1 paper

NM_001009944.3

p.L1191delFs

c.3571_3572delAG

1 paper

NM_001009944.3

p.L1191R

c.3572T>G

2 papers

NM_001009944.3

p.A1200fs

c.3598_3599fs

3 papers

NM_001009944.3

p.R1190C

c.3568C>T

1 paper

NM_001009944.3

p.A1200G

c.3599C>G

1 paper

NM_001009944.3

p.G1199_A1200delFs

c.3597_3598delCA