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.L3030fs

c.9088_9089fs

Surrounding Variants

1 paper

NM_001009944.3

p.L3030L

c.9090G>T

1 paper

NM_001009944.3

p.L3030delFs

c.9088delG

2 papers

NM_001009944.3

p.G3029E

c.9086G>A

5 papers

NM_001009944.3

p.E3028delFs

c.9083_9084delCT

1 paper

NM_001009944.3

p.P3032L

c.9095C>T

1 paper

NM_001009944.3

p.P3032R

c.9095C>G

1 paper

NM_001009944.3

p.L3031_P3032del1

c.9092_9094delGCA

1 paper

NM_001009944.3

p.L3033fs

c.9097_9098fs

1 paper

NM_001009944.3

p.E3028A

c.9083A>C

3 papers

NM_001009944.3

p.L3033delFs

c.9097delG

4 papers

NM_001009944.3

p.E3028fs

c.9082_9083fs

1 paper

NM_001009944.3

p.T3027_L3033Fs

c.9081_9099delinsCCCTCFs