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.W3267*

c.9801G>A

Surrounding Variants

1 paper

NM_001009944.3

p.S3265_W3267del0

c.9794_9799del6

1 paper

NM_001009944.3

p.D3268E

c.9804C>G

1 paper

NM_001009944.3

p.D3268E

c.9804C>A

1 paper

NM_001009944.3

p.I3266M

c.9798A>G

2 papers

NM_001009944.3

p.R3269W

c.9805C>T

6 papers

NM_001009944.3

p.R3269Q

c.9806G>A

1 paper

NM_001009944.3

p.S3265S

c.9795C>T

2 papers

NM_001009944.3

p.S3265C

c.9794C>G

1 paper

NM_001009944.3

p.P3270L

c.9809C>T

3 papers

NM_001009944.3

p.W3263C

c.9789G>T

2 papers

NM_001009944.3

p.W3263C

c.9789G>C

1 paper

NM_001009944.3

p.W3263R

c.9787T>C