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.H1938Q

c.5814C>A

Surrounding Variants

1 paper

NM_001009944.3

p.H1938fs

c.5812_5813fs

1 paper

NM_001009944.3

p.H1938insFs

c.5813_5814insC

1 paper

NM_001009944.3

p.H1938delFs

c.5812delG

1 paper

NM_001009944.3

p.F1936C

c.5807T>G

1 paper

NM_001009944.3

p.R1935fs

c.5803_5804fs

1 paper

NM_001009944.3

p.R1935delFs

c.5803delG

2 papers

NM_001009944.3

p.R1942C

c.5824C>T

1 paper

NM_001009944.3

p.R1942fs

c.5824_5825fs

2 papers

NM_001009944.3

p.R1942insFs

c.5824dupC

1 paper

NM_001009944.3

p.R1942H

c.5825G>A

1 paper

NM_001009944.3

p.R1942delFs

c.5824delG

1 paper

NM_001009944.3

p.R1942fs

c.5824_5825fs