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

2 papers

NM_001009944.3

p.I3288I

c.9864C>A

Surrounding Variants

1 paper

NM_001009944.3

p.C3289S

c.9865T>A

1 paper

NM_001009944.3

p.C3289S

c.9866G>C

13 papers

NM_001009944.3

p.L3287del1

c.9859_9860delGAG

1 paper

NM_001009944.3

p.L3287R

c.9860T>G

1 paper

NM_001009944.3

p.L3287V

c.9859C>G

1 paper

NM_001009944.3

p.L3287I

c.9859C>A

2 papers

NM_001009944.3

p.L3286P

c.9857T>C

1 paper

NM_001009944.3

p.F3291F

c.9873C>T

1 paper

NM_001009944.3

p.V3285G

c.9854T>G

1 paper

NM_001009944.3

p.L3292delFs

c.9874delG

3 papers

NM_001009944.3

p.V3285I

c.9853G>A

1 paper

NM_001009944.3

p.C3284fs

c.9850_9851fs