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

2 papers

NM_001009944.3

p.T1667P

c.4999A>C

Surrounding Variants

1 paper

NM_001009944.3

p.T1667A

c.4999A>G

2 papers

NM_001009944.3

p.W1666C

c.4998G>T

2 papers

NM_001009944.3

p.W1666C

c.4998G>C

3 papers

NM_001009944.3

p.W1666*

c.4998G>A

2 papers

NM_001009944.3

p.W1666S

c.4997G>C

3 papers

NM_001009944.3

p.W1666*

c.4997G>A

1 paper

NM_001009944.3

p.Y1664_S1665del2

c.4990_4994del6

1 paper

NM_001009944.3

p.W1666G

c.4996T>G

1 paper

NM_001009944.3

p.S1665delFs

c.4995delG

1 paper

NM_001009944.3

p.A1668fs

c.5002_5003fs

1 paper

NM_001009944.3

p.A1668A

c.5004C>T

1 paper

NM_001009944.3

p.W1669*

c.5006G>A