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

9 papers

NM_001009944.3

p.V1604M

c.4810G>A

Surrounding Variants

2 papers

NM_001009944.3

p.G1605S

c.4813G>A

1 paper

NM_001009944.3

p.R1602delFs

c.4804delG

2 papers

NM_001009944.3

p.R1602fs

c.4804_4805fs

1 paper

NM_001009944.3

p.T1606S

c.4816A>T

1 paper

NM_001009944.3

p.T1606S

c.4817C>G

1 paper

NM_001009944.3

p.F1601insFs

c.4802dupT

2 papers

NM_001009944.3

p.F1601S

c.4802T>C

1 paper

NM_001009944.3

p.T1606T

c.4818C>T

3 papers

NM_001009944.3

p.F1607L

c.4819T>C

1 paper

NM_001009944.3

p.T1600fs

c.4798_4799fs

3 papers

NM_001009944.3

p.F1607L

c.4821C>G

1 paper

NM_001009944.3

p.T1600insFs

c.4798dupA