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

4 papers

NM_001009944.3

p.F3064L

c.9192T>G

Surrounding Variants

4 papers

NM_001009944.3

p.F3064L

c.9192T>A

2 papers

NM_001009944.3

p.V3065M

c.9193G>A

4 papers

NM_001009944.3

p.F3064L

c.9190T>C

8 papers

NM_001009944.3

p.V3065V

c.9195G>C

21 papers

NM_001009944.3

p.F3066L

c.9196T>C

2 papers

NM_001009944.3

p.V3065_F3066delins

c.9195_9196delinsCC

4 papers

NM_001009944.3

p.R3063P

c.9188G>C

1 paper

NM_001009944.3

p.R3063H

c.9188G>A

6 papers

NM_001009944.3

p.R3063C

c.9187C>T

21 papers

NM_001009944.3

p.F3066L

c.9198T>G

21 papers

NM_001009944.3

p.F3066L

c.9198T>A

1 paper

NM_001009944.3

p.V3062fs

c.9184_9185fs