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.A2871D

c.8612C>A

Surrounding Variants

1 paper

NM_001009944.3

p.A2871T

c.8611G>A

1 paper

NM_001009944.3

p.I2872fs

c.8614_8615fs

1 paper

NM_001009944.3

p.I2872N

c.8615T>A

4 papers

NM_001009944.3

p.I2872delFs

c.8614delT

1 paper

NM_001009944.3

p.I2872fs

c.8614_8615fs

2 papers

NM_001009944.3

p.E2869delFs

c.8606_8607delCT

1 paper

NM_001009944.3

p.T2873I

c.8618C>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.V2874L

c.8620G>T

1 paper

NM_001009944.3

p.V2874L

c.8620G>C

1 paper

NM_001009944.3

p.V2874M

c.8620G>A