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.C2795insFs

c.8383dupT

Surrounding Variants

1 paper

NM_001009944.3

p.L2794P

c.8381T>C

2 papers

NM_001009944.3

p.Y2796*

c.8388T>G

2 papers

NM_001009944.3

p.Y2796*

c.8388T>A

2 papers

NM_001009944.3

p.Q2784_Y2796del13

c.8350_8387del39

1 paper

NM_001009944.3

p.L2793R

c.8378T>G

2 papers

NM_001009944.3

p.L2793V

c.8377C>G

1 paper

NM_001009944.3

p.D2789_S2792delFs

c.8367_8374del8

2 papers

NM_001009944.3

p.R2791insFs

c.8371_8372dupCG

1 paper

NM_001009944.3

p.R2791R

c.8373G>A

2 papers

NM_001009944.3

p.R2791insFs

c.8371dupC

1 paper

NM_001009944.3

p.R2791Q

c.8372G>A

2 papers

NM_001009944.3

p.R2791fs

c.8371_8372fs