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.R832delFs

c.2494delG

Surrounding Variants

10 papers

NM_001009944.3

p.R832insFs

c.2494dupC

2 papers

NM_001009944.3

p.R832fs

c.2494_2495fs

4 papers

NM_001009944.3

p.R832fs

c.2494_2495fs

1 paper

NM_001009944.3

p.A822_R832del11

c.2464_2495del33

1 paper

NM_001009944.3

p.D833D

c.2499C>T

1 paper

NM_001009944.3

p.P829fs

c.2485_2486fs

1 paper

NM_001009944.3

p.P829delFs

c.2486delG

1 paper

NM_001009944.3

p.P829L

c.2486C>T

1 paper

NM_001009944.3

p.Y828delFs

c.2483delT

1 paper

NM_001009944.3

p.L836P

c.2507T>C

1 paper

NM_001009944.3

p.L836L

c.2508C>T

2 papers

NM_001009944.3

p.L836L

c.2508C>G