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.N746S

c.2237A>G

Surrounding Variants

1 paper

NM_001009944.3

p.N746insFs

c.2236_2237insA

1 paper

NM_001009944.3

p.N746fs

c.2236_2237fs

1 paper

NM_001009944.3

p.A745delFs

c.2235delG

1 paper

NM_001009944.3

p.A745A

c.2235C>G

1 paper

NM_001009944.3

p.A745G

c.2234C>G

1 paper

NM_001009944.3

p.A745insFs

c.2234_2235insT

4 papers

NM_001009944.3

p.S748A

c.2242T>G

1 paper

NM_001009944.3

p.S744delFs

c.2230_2231delGA

2 papers

NM_001009944.3

p.S748L

c.2243C>T

3 papers

NM_001009944.3

p.S744A

c.2230T>G

1 paper

NM_001009944.3

p.S744fs

c.2230_2231fs

1 paper

NM_001009944.3

p.S749*

c.2246C>G