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.I827fs

c.2479_2480fs

Surrounding Variants

1 paper

NM_001009944.3

p.I827_Y828insG

c.2479_2483ins3

1 paper

NM_001009944.3

p.V826delFs

c.2478delG

1 paper

NM_001009944.3

p.Y828delFs

c.2483delT

1 paper

NM_001009944.3

p.V826insFs

c.2477_2478ins5

1 paper

NM_001009944.3

p.P829L

c.2486C>T

1 paper

NM_001009944.3

p.P829fs

c.2485_2486fs

1 paper

NM_001009944.3

p.P829delFs

c.2486delG

1 paper

NM_001009944.3

p.R825delFs

c.2473_2474delCG

1 paper

NM_001009944.3

p.R825Q

c.2474G>A

3 papers

NM_001009944.3

p.R825W

c.2473C>T

1 paper

NM_001009944.3

p.L824delFs

c.2470delG

4 papers

NM_001009944.3

p.R832fs

c.2494_2495fs