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

2 papers

NM_001009944.3

p.Q947*

c.2839C>T

Surrounding Variants

1 paper

NM_001009944.3

p.A943_L946del4

c.2827_2837del12

1 paper

NM_001009944.3

p.L946L

c.2838G>A

1 paper

NM_001009944.3

p.A943_L946del0

c.2829_2837del9

1 paper

NM_001009944.3

p.G948V

c.2843G>T

1 paper

NM_001009944.3

p.V945delFs

c.2833_2834delAC

1 paper

NM_001009944.3

p.V945fs

c.2833_2834fs

1 paper

NM_001009944.3

p.R944insFs

c.2830_2831insC

1 paper

NM_001009944.3

p.R944C

c.2830C>T

2 papers

NM_001009944.3

p.L950P

c.2849T>C

1 paper

NM_001009944.3

p.V951M

c.2851G>A

1 paper

NM_001009944.3

p.S940_E942delFs

c.2820_2826del7

1 paper

NM_001009944.3

p.V951A

c.2852T>C