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.A3281delFs

c.9841delC

Surrounding Variants

1 paper

NM_001009944.3

p.T3282fs

c.9844_9845fs

1 paper

NM_001009944.3

p.R3280_A3281insFs

c.9840_9843dup4

1 paper

NM_001009944.3

p.A3281delFs

c.9843delG

2 papers

NM_001009944.3

p.R3280T

c.9839G>C

1 paper

NM_001009944.3

p.C3283insFs

c.9848_9849insT

1 paper

NM_001009944.3

p.Q3279*

c.9835C>T

1 paper

NM_001009944.3

p.C3284Y

c.9851G>A

1 paper

NM_001009944.3

p.C3284fs

c.9850_9851fs

3 papers

NM_001009944.3

p.C3284*

c.9852C>A

3 papers

NM_001009944.3

p.V3285I

c.9853G>A

1 paper

NM_001009944.3

p.V3285G

c.9854T>G

1 paper

NM_001009944.3

p.T3276_R3277delFs

c.9826_9829del4