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

1 paper

NM_001009944.3

p.N2167T

c.6500A>C

Surrounding Variants

1 paper

NM_001009944.3

p.N2167S

c.6500A>G

2 papers

NM_001009944.3

p.N2167D

c.6499A>G

1 paper

NM_001009944.3

p.R2166L

c.6497G>T

1 paper

NM_001009944.3

p.Y2168C

c.6503A>G

2 papers

NM_001009944.3

p.R2166C

c.6496C>T

3 papers

NM_001009944.3

p.Y2168*

c.6504C>G

3 papers

NM_001009944.3

p.Y2168*

c.6504C>A

1 paper

NM_001009944.3

p.Q2165delFs

c.6493_6494delTG

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.E2170K

c.6508G>A

4 papers

NM_001009944.3

p.S2164*

c.6491C>G