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.W1500*

c.4500G>A

Surrounding Variants

1 paper

NM_001009944.3

p.W1500C

c.4500G>C

2 papers

NM_001009944.3

p.W1500*

c.4499G>A

1 paper

NM_001009944.3

p.W1500G

c.4498T>G

1 paper

NM_001009944.3

p.W1500R

c.4498T>C

1 paper

NM_001009944.3

p.W1500R

c.4498T>A

1 paper

NM_001009944.3

p.L1499insFs

c.4496dupT

2 papers

NM_001009944.3

p.L1502P

c.4505T>C

7 papers

NM_001009944.3

p.L1499L

c.4495C>T

3 papers

NM_001009944.3

p.Y1498*

c.4494C>G

4 papers

NM_001009944.3

p.Y1498*

c.4494C>A

1 paper

NM_001009944.3

p.G1503W

c.4507G>T

4 papers

NM_001009944.3

p.G1503R

c.4507G>C