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.G1248_V1252delFs

c.3744_3754del11

Surrounding Variants

1 paper

NM_001009944.3

p.T1251fs

c.3751_3752fs

1 paper

NM_001009944.3

p.T1251P

c.3751A>C

1 paper

NM_001009944.3

p.G1250delFs

c.3750delG

1 paper

NM_001009944.3

p.S1254L

c.3761C>T

3 papers

NM_001009944.3

p.G1250S

c.3748G>A

1 paper

NM_001009944.3

p.D1249fs

c.3745_3746fs

1 paper

NM_001009944.3

p.D1249G

c.3746A>G

1 paper

NM_001009944.3

p.G1248_D1249insFs

c.3744_3745dupGG

2 papers

NM_001009944.3

p.D1249delFs

c.3745delC

1 paper

NM_001009944.3

p.G1248_D1249del1

c.3743_3745delCCC

2 papers

NM_001009944.3

p.G1248A

c.3743G>C

1 paper

NM_001009944.3

p.G1248R

c.3742G>C