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.L811L

c.2433C>G

Surrounding Variants

1 paper

NM_001009944.3

p.S812A

c.2434T>G

1 paper

NM_001009944.3

p.S812delFs

c.2434delA

2 papers

NM_001009944.3

p.S812_C813insFs

c.2436_2437insT

1 paper

NM_001009944.3

p.C813Y

c.2438G>A

2 papers

NM_001009944.3

p.S812_C813delFs

c.2435_2439del5

1 paper

NM_001009944.3

p.H809N

c.2425C>A

2 papers

NM_001009944.3

p.R799_S807delFs

c.2396_2421del26

1 paper

NM_001009944.3

p.S807S

c.2421C>G

1 paper

NM_001009944.3

p.D816fs

c.2446_2447fs

1 paper

NM_001009944.3

p.D816delFs

c.2447delT

1 paper

NM_001009944.3

p.D816insFs

c.2448dupC

1 paper

NM_001009944.3

p.V818delFs

c.2452delC