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.A1961V

c.5882C>T

Surrounding Variants

1 paper

NM_001009944.3

p.A1959_A1961del0

c.5877_5882del6

5 papers

NM_001009944.3

p.Q1962*

c.5884C>T

1 paper

NM_001009944.3

p.Q1962fs

c.5884_5885fs

9 papers

NM_001009944.3

p.Q1960*

c.5878C>T

1 paper

NM_001009944.3

p.A1959delFs

c.5875delC

1 paper

NM_001009944.3

p.A1959fs

c.5875_5876fs

2 papers

NM_001009944.3

p.W1958*

c.5874G>A

3 papers

NM_001009944.3

p.W1958*

c.5873G>A

2 papers

NM_001009944.3

p.S1957insFs

c.5869_5870dupAG

2 papers

NM_001009944.3

p.I1965_V1966insFs

c.5895_5896insA

1 paper

NM_001009944.3

p.V1966M

c.5896G>A

1 paper

NM_001009944.3

p.V1956insFs

c.5866_5867insG