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.T1612insFs

c.4834dupA

Surrounding Variants

6 papers

NM_001009944.3

p.T1612M

c.4835C>T

1 paper

NM_001009944.3

p.T1612fs

c.4834_4835fs

1 paper

NM_001009944.3

p.T1612T

c.4836G>A

7 papers

NM_001009944.3

p.V1611I

c.4831G>A

4 papers

NM_001009944.3

p.I1610del1

c.4828_4830delGAT

1 paper

NM_001009944.3

p.E1614*

c.4840G>T

1 paper

NM_001009944.3

p.I1610T

c.4829T>C

1 paper

NM_001009944.3

p.N1608_I1609del1

c.4823_4825delTAT

2 papers

NM_001009944.3

p.N1615N

c.4845C>T

1 paper

NM_001009944.3

p.E1616*

c.4846G>T

1 paper

NM_001009944.3

p.N1608S

c.4823A>G

1 paper

NM_001009944.3

p.E1616E

c.4848G>A