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

4 papers

NM_001009944.3

p.L2866P

c.8597T>C

Surrounding Variants

1 paper

NM_001009944.3

p.R2865Q

c.8594G>A

3 papers

NM_001009944.3

p.R2865W

c.8593C>T

3 papers

NM_001009944.3

p.S2868*

c.8603C>G

3 papers

NM_001009944.3

p.S2868*

c.8603C>A

3 papers

NM_001009944.3

p.E2864*

c.8590G>T

1 paper

NM_001009944.3

p.E2869*

c.8605G>T

1 paper

NM_001009944.3

p.E2869fs

c.8605_8606fs

1 paper

NM_001009944.3

p.P2862delFs

c.8586delG

2 papers

NM_001009944.3

p.E2869delFs

c.8606_8607delCT

1 paper

NM_001009944.3

p.A2871T

c.8611G>A

1 paper

NM_001009944.3

p.A2871D

c.8612C>A

1 paper

NM_001009944.3

p.Q2860delFs

c.8579delT