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.E3252D

c.9756G>T

Surrounding Variants

2 papers

NM_001009944.3

p.E3252D

c.9756G>C

1 paper

NM_001009944.3

p.E3252delFs

c.9755_9756delCT

1 paper

NM_001009944.3

p.L3253P

c.9758T>C

1 paper

NM_001009944.3

p.Q3254fs

c.9760_9761fs

2 papers

NM_001009944.3

p.Q3254*

c.9760C>T

1 paper

NM_001009944.3

p.A3251G

c.9752C>G

1 paper

NM_001009944.3

p.A3251T

c.9751G>A

1 paper

NM_001009944.3

p.R3255C

c.9763C>T

1 paper

NM_001009944.3

p.R3255R

c.9765T>C

2 papers

NM_001009944.3

p.L3249P

c.9746T>C

1 paper

NM_001009944.3

p.L3249Q

c.9746T>A

1 paper

NM_001009944.3

p.F3257L

c.9769T>C