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.G905G

c.2715G>A

Surrounding Variants

1 paper

NM_001009944.3

p.G905G

c.2715G>T

4 papers

NM_001009944.3

p.E904delFs

c.2711_2712delCT

1 paper

NM_001009944.3

p.E906insFs

c.2716dupG

1 paper

NM_001009944.3

p.E906delFs

c.2716delC

1 paper

NM_001009944.3

p.E906D

c.2718G>T

1 paper

NM_001009944.3

p.E906fs

c.2716_2717fs

1 paper

NM_001009944.3

p.E906D

c.2718G>C

2 papers

NM_001009944.3

p.E904fs

c.2710_2711fs

1 paper

NM_001009944.3

p.V908M

c.2722G>A

1 paper

NM_001009944.3

p.S903G

c.2707A>G

1 paper

NM_001009944.3

p.L902delFs

c.2705delA

1 paper

NM_001009944.3

p.V909M

c.2725G>A