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.D2238A

c.6713A>C

Surrounding Variants

1 paper

NM_001009944.3

p.D2238delFs

c.6712delC

1 paper

NM_001009944.3

p.D2238fs

c.6712_6713fs

1 paper

NM_001009944.3

p.G2237V

c.6710G>T

1 paper

NM_001009944.3

p.T2239fs

c.6715_6716fs

1 paper

NM_001009944.3

p.G2237R

c.6709G>C

1 paper

NM_001009944.3

p.G2237R

c.6709G>A

2 papers

NM_001009944.3

p.F2236L

c.6708T>G

2 papers

NM_001009944.3

p.F2236L

c.6708T>A

2 papers

NM_001009944.3

p.F2236L

c.6706T>C

3 papers

NM_001009944.3

p.S2235L

c.6704C>T

2 papers

NM_001009944.3

p.S2235*

c.6704C>G

1 paper

NM_001009944.3

p.S2235*

c.6704C>A