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.F3258L

c.9774T>G

Surrounding Variants

1 paper

NM_001009944.3

p.F3258L

c.9774T>A

1 paper

NM_001009944.3

p.F3258_D3259insFs

c.9774_9775insT

3 papers

NM_001009944.3

p.F3257_F3258delFs

c.9771_9774del4

1 paper

NM_001009944.3

p.F3258L

c.9772T>C

1 paper

NM_001009944.3

p.F3257L

c.9771C>G

1 paper

NM_001009944.3

p.F3257L

c.9771C>A

1 paper

NM_001009944.3

p.F3257L

c.9769T>C

1 paper

NM_001009944.3

p.Q3254_G3256delFs

c.9761_9768del8

1 paper

NM_001009944.3

p.F3257fs

c.9769_9770fs

1 paper

NM_001009944.3

p.K3260K

c.9780G>A

1 paper

NM_001009944.3

p.H3261R

c.9782A>G

1 paper

NM_001009944.3

p.R3255R

c.9765T>C