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.T1993del1

c.5977_5978delTGT

Surrounding Variants

1 paper

NM_001009944.3

p.T1993T

c.5979A>G

5 papers

NM_001009944.3

p.F1992_T1993del1

c.5976_5978delGTG

3 papers

NM_001009944.3

p.R1995C

c.5983C>T

1 paper

NM_001009944.3

p.R1995P

c.5984G>C

2 papers

NM_001009944.3

p.R1995H

c.5984G>A

2 papers

NM_001009944.3

p.F1992L

c.5976C>G

3 papers

NM_001009944.3

p.F1992L

c.5976C>A

3 papers

NM_001009944.3

p.F1992L

c.5974T>C

1 paper

NM_001009944.3

p.N1991fs

c.5971_5972fs

3 papers

NM_001009944.3

p.Q1997*

c.5989C>T

1 paper

NM_001009944.3

p.R1990delFs

c.5970delC

2 papers

NM_001009944.3

p.R1990fs

c.5968_5969fs