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.Q1975*

c.5923C>T

Surrounding Variants

1 paper

NM_001009944.3

p.P1977R

c.5930C>G

1 paper

NM_001009944.3

p.S1972fs

c.5914_5915fs

1 paper

NM_001009944.3

p.V1971insFs

c.5912dupT

1 paper

NM_001009944.3

p.V1971V

c.5913G>A

3 papers

NM_001009944.3

p.V1971M

c.5911G>A

1 paper

NM_001009944.3

p.A1970G

c.5909C>G

1 paper

NM_001009944.3

p.C1979*

c.5937C>A

1 paper

NM_001009944.3

p.C1980*

c.5940C>A

2 papers

NM_001009944.3

p.E1969*

c.5905G>T

1 paper

NM_001009944.3

p.E1981A

c.5942A>C

1 paper

NM_001009944.3

p.V1967del1

c.5899_5900delCAC

1 paper

NM_001009944.3

p.V1967M

c.5899G>A