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.F3275insFs

c.9824dupT

Surrounding Variants

1 paper

NM_001009944.3

p.T3276fs

c.9826_9827fs

1 paper

NM_001009944.3

p.T3276fs

c.9826_9827fs

1 paper

NM_001009944.3

p.T3276delFs

c.9827delG

100 papers

NM_001009944.3

p.R3277C

c.9829C>T

1 paper

NM_001009944.3

p.T3276_R3277delFs

c.9826_9829del4

2 papers

NM_001009944.3

p.R3274C

c.9820C>T

2 papers

NM_001009944.3

p.R3272H

c.9815G>A

1 paper

NM_001009944.3

p.R3272delFs

c.9814delG

1 paper

NM_001009944.3

p.Q3279*

c.9835C>T

2 papers

NM_001009944.3

p.R3280T

c.9839G>C

1 paper

NM_001009944.3

p.P3270L

c.9809C>T

1 paper

NM_001009944.3

p.A3281delFs

c.9841delC