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

21 papers

NM_001009944.3

p.F3066L

c.9198T>A

Surrounding Variants

21 papers

NM_001009944.3

p.F3066L

c.9198T>G

21 papers

NM_001009944.3

p.F3066L

c.9196T>C

2 papers

NM_001009944.3

p.V3065_F3066delins

c.9195_9196delinsCC

1 paper

NM_001009944.3

p.P3067R

c.9200C>G

1 paper

NM_001009944.3

p.P3067fs

c.9199_9200fs

8 papers

NM_001009944.3

p.V3065V

c.9195G>C

1 paper

NM_001009944.3

p.P3067_E3068Splc

c.9201+1G>T

1 paper

NM_001009944.3

p.P3067_E3068Splc

c.9201+1G>C

1 paper

NM_001009944.3

p.P3067_E3068Splc

c.9201+1G>A

1 paper

NM_001009944.3

p.P3067_E3068Splc

c.9201+2T>C

2 papers

NM_001009944.3

p.V3065M

c.9193G>A

4 papers

NM_001009944.3

p.F3064L

c.9192T>G