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.V2173_D2174del1

c.6518_6520delCAA

Surrounding Variants

2 papers

NM_001009944.3

p.V2173D

c.6518T>A

1 paper

NM_001009944.3

p.D2177Y

c.6529G>T

1 paper

NM_001009944.3

p.A2171G

c.6512C>G

1 paper

NM_001009944.3

p.A2171D

c.6512C>A

1 paper

NM_001009944.3

p.D2177insFs

c.6529_6530insG

1 paper

NM_001009944.3

p.D2177fs

c.6529_6530fs

1 paper

NM_001009944.3

p.C2178S

c.6532T>A

1 paper

NM_001009944.3

p.C2178S

c.6533G>C

1 paper

NM_001009944.3

p.C2178Y

c.6533G>A

1 paper

NM_001009944.3

p.E2170K

c.6508G>A

1 paper

NM_001009944.3

p.C2178C

c.6534C>T

1 paper

NM_001009944.3

p.C2178fs

c.6532_6533fs