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.Q2136R

c.6407A>G

Surrounding Variants

8 papers

NM_001009944.3

p.Q2136*

c.6406C>T

2 papers

NM_001009944.3

p.A2135V

c.6404C>T

1 paper

NM_001009944.3

p.T2138S

c.6412A>T

11 papers

NM_001009944.3

p.F2133del1

c.6397_6398delGAA

1 paper

NM_001009944.3

p.F2133insFs

c.6398dupT

1 paper

NM_001009944.3

p.F2132L

c.6396C>G

1 paper

NM_001009944.3

p.F2132L

c.6396C>A

10 papers

NM_001009944.3

p.F2132C

c.6395T>G

1 paper

NM_001009944.3

p.F2132L

c.6394T>C

1 paper

NM_001009944.3

p.V2141F

c.6421G>T

1 paper

NM_001009944.3

p.V2141fs

c.6421_6422fs

2 papers

NM_001009944.3

p.Q2142fs

c.6424_6425fs