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.S2757C

c.8270C>G

Surrounding Variants

1 paper

NM_001009944.3

p.T2756I

c.8267C>T

1 paper

NM_001009944.3

p.L2759P

c.8276T>C

2 papers

NM_001009944.3

p.M2760R

c.8279T>G

5 papers

NM_001009944.3

p.M2760T

c.8279T>C

3 papers

NM_001009944.3

p.Y2753*

c.8259C>G

2 papers

NM_001009944.3

p.Y2753*

c.8259C>A

6 papers

NM_001009944.3

p.R2761P

c.8282G>C

1 paper

NM_001009944.3

p.R2761H

c.8282G>A

1 paper

NM_001009944.3

p.R2761_I2762ins4

c.8283_8284ins12

1 paper

NM_001009944.3

p.A2752G

c.8255C>G

2 papers

NM_001009944.3

p.A2752D

c.8255C>A

1 paper

NM_001009944.3

p.A2752P

c.8254G>C