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

11 papers

NM_001009944.3

p.G1999S

c.5995G>A

Surrounding Variants

1 paper

NM_001009944.3

p.G1999V

c.5996G>T

1 paper

NM_001009944.3

p.R1998_G1999insFs

c.5994_5995insCG

1 paper

NM_001009944.3

p.R1998C

c.5992C>T

2 papers

NM_001009944.3

p.Q1997delFs

c.5991delC

2 papers

NM_001009944.3

p.Q1997fs

c.5989_5990fs

3 papers

NM_001009944.3

p.S2000C

c.5999C>G

3 papers

NM_001009944.3

p.Q1997*

c.5989C>T

1 paper

NM_001009944.3

p.R2001W

c.6001C>T

2 papers

NM_001009944.3

p.V2002D

c.6005T>A

1 paper

NM_001009944.3

p.G1999_V2002delFs

c.5997_6004del8

1 paper

NM_001009944.3

p.R1995P

c.5984G>C

2 papers

NM_001009944.3

p.R1995H

c.5984G>A