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.C1980*

c.5940C>A

Surrounding Variants

1 paper

NM_001009944.3

p.E1981A

c.5942A>C

1 paper

NM_001009944.3

p.C1979*

c.5937C>A

1 paper

NM_001009944.3

p.P1977R

c.5930C>G

1 paper

NM_001009944.3

p.I1984V

c.5950A>G

1 paper

NM_001009944.3

p.A1985T

c.5953G>A

5 papers

NM_001009944.3

p.T1986M

c.5957C>T

4 papers

NM_001009944.3

p.Q1975*

c.5923C>T

1 paper

NM_001009944.3

p.G1987D

c.5960G>A

1 paper

NM_001009944.3

p.G1987insFs

c.5960dupG

1 paper

NM_001009944.3

p.T1988I

c.5963C>T

1 paper

NM_001009944.3

p.T1988insFs

c.5963_5964insG

1 paper

NM_001009944.3

p.T1988fs

c.5962_5963fs