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.V912_V913insFs

c.2736_2737insA

Surrounding Variants

1 paper

NM_001009944.3

p.V912V

c.2736G>T

1 paper

NM_001009944.3

p.V912delFs

c.2735_2736delCA

2 papers

NM_001009944.3

p.D910_V912del3

c.2728_2735del9

2 papers

NM_001009944.3

p.V912_V913insG

c.2734_2738ins3

1 paper

NM_001009944.3

p.V912fs

c.2734_2735fs

1 paper

NM_001009944.3

p.V911G

c.2732T>G

1 paper

NM_001009944.3

p.V911E

c.2732T>A

9 papers

NM_001009944.3

p.D910D

c.2730C>T

1 paper

NM_001009944.3

p.D910fs

c.2728_2729fs

1 paper

NM_001009944.3

p.D910A

c.2729A>C

1 paper

NM_001009944.3

p.N915K

c.2745C>G

1 paper

NM_001009944.3

p.N915K

c.2745C>A