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.G2785D

c.8354G>A

Surrounding Variants

1 paper

NM_001009944.3

p.G2785R

c.8353G>C

2 papers

NM_001009944.3

p.K2786E

c.8356A>G

1 paper

NM_001009944.3

p.Q2784insFs

c.8351_8352insC

1 paper

NM_001009944.3

p.Q2784fs

c.8350_8351fs

2 papers

NM_001009944.3

p.Q2784*

c.8350C>T

1 paper

NM_001009944.3

p.V2782_A2783insFs

c.8346_8349dup4

1 paper

NM_001009944.3

p.R2787G

c.8359C>G

1 paper

NM_001009944.3

p.R2787P

c.8360G>C

1 paper

NM_001009944.3

p.R2787H

c.8360G>A

1 paper

NM_001009944.3

p.R2787delFs

c.8359delG

2 papers

NM_001009944.3

p.A2783P

c.8347G>C

1 paper

NM_001009944.3

p.S2788insFs

c.8362_8363ins14