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.T2271insFs

c.6813dupA

Surrounding Variants

1 paper

NM_001009944.3

p.R2272fs

c.6814_6815fs

3 papers

NM_001009944.3

p.T2271_R2272delFs

c.6813_6814delGT

1 paper

NM_001009944.3

p.R2272fs

c.6814_6815fs

1 paper

NM_001009944.3

p.T2271insFs

c.6811dupA

2 papers

NM_001009944.3

p.D2270_T2271delFs

c.6808_6811del4

1 paper

NM_001009944.3

p.D2270fs

c.6808_6809fs

1 paper

NM_001009944.3

p.L2274R

c.6821T>G

4 papers

NM_001009944.3

p.S2269*

c.6806C>G

4 papers

NM_001009944.3

p.S2269*

c.6806C>A

1 paper

NM_001009944.3

p.W2268delFs

c.6804delC

2 papers

NM_001009944.3

p.W2268C

c.6804G>T

2 papers

NM_001009944.3

p.W2268C

c.6804G>C