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.P2070fs

c.6208_6209fs

Surrounding Variants

1 paper

NM_001009944.3

p.P2070R

c.6209C>G

1 paper

NM_001009944.3

p.P2070delFs

c.6209_6210delGG

2 papers

NM_001009944.3

p.A2065_Q2067del3

c.6193_6200del9

8 papers

NM_001009944.3

p.Q2067*

c.6199C>T

1 paper

NM_001009944.3

p.N2074fs

c.6220_6221fs

1 paper

NM_001009944.3

p.A2065delFs

c.6193delC

1 paper

NM_001009944.3

p.D2059_V2064del6

c.6175_6191del18

1 paper

NM_001009944.3

p.N2074delFs

c.6221delT

3 papers

NM_001009944.3

p.R2075C

c.6223C>T

1 paper

NM_001009944.3

p.R2075insFs

c.6223_6224insTT

1 paper

NM_001009944.3

p.A2065fs

c.6193_6194fs

1 paper

NM_001009944.3

p.R2075L

c.6224G>T