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.S2164*

c.6491C>G

Surrounding Variants

4 papers

NM_001009944.3

p.S2164*

c.6491C>A

1 paper

NM_001009944.3

p.Q2165fs

c.6493_6494fs

8 papers

NM_001009944.3

p.Q2165*

c.6493C>T

1 paper

NM_001009944.3

p.V2154_R2163insFs

c.6462_6487dup26

1 paper

NM_001009944.3

p.R2163Q

c.6488G>A

1 paper

NM_001009944.3

p.Q2165delFs

c.6493_6494delTG

23 papers

NM_001009944.3

p.R2163*

c.6487C>T

1 paper

NM_001009944.3

p.R2163fs

c.6487_6488fs

2 papers

NM_001009944.3

p.R2166C

c.6496C>T

1 paper

NM_001009944.3

p.R2166L

c.6497G>T

1 paper

NM_001009944.3

p.R2162Q

c.6485G>A

7 papers

NM_001009944.3

p.R2162W

c.6484C>T