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

32 papers

NM_001009944.3

p.R2430*

c.7288C>T

Surrounding Variants

2 papers

NM_001009944.3

p.R2430G

c.7288C>G

1 paper

NM_001009944.3

p.A2427_R2430delFs

c.7281_7288del8

3 papers

NM_001009944.3

p.R2430_L2431delins

c.7290_7291delinsCTGCA

1 paper

NM_001009944.3

p.L2431P

c.7292T>C

4 papers

NM_001009944.3

p.L2431Q

c.7292T>A

1 paper

NM_001009944.3

p.G2428G

c.7284C>T

1 paper

NM_001009944.3

p.V2432L

c.7294G>T

1 paper

NM_001009944.3

p.V2432L

c.7294G>C

1 paper

NM_001009944.3

p.T2421_A2427delFs

c.7263_7279del17

1 paper

NM_001009944.3

p.G2428fs

c.7282_7283fs

1 paper

NM_001009944.3

p.A2427G

c.7280C>G

1 paper

NM_001009944.3

p.L2433R

c.7298T>G