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.L2216P

c.6647T>C

Surrounding Variants

2 papers

NM_001009944.3

p.L2216L

c.6646C>T

1 paper

NM_001009944.3

p.V2217delFs

c.6649delC

2 papers

NM_001009944.3

p.R2215Q

c.6644G>A

18 papers

NM_001009944.3

p.R2215W

c.6643C>T

1 paper

NM_001009944.3

p.P2214_V2217del4

c.6640_6650del12

3 papers

NM_001009944.3

p.P2219L

c.6656C>T

2 papers

NM_001009944.3

p.L2218del1

c.6652_6653delCAG

1 paper

NM_001009944.3

p.P2214_P2219ins2

c.6642_6656dup15

1 paper

NM_001009944.3

p.P2219fs

c.6655_6656fs

2 papers

NM_001009944.3

p.R2213W

c.6637C>T

1 paper

NM_001009944.3

p.R2220fs

c.6658_6659fs

15 papers

NM_001009944.3

p.R2220W

c.6658C>T