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.N2044K

c.6132C>A

Surrounding Variants

1 paper

NM_001009944.3

p.N2044K

c.6132C>G

3 papers

NM_001009944.3

p.N2044D

c.6130A>G

1 paper

NM_001009944.3

p.N2044H

c.6130A>C

1 paper

NM_001009944.3

p.L2046fs

c.6136_6137fs

4 papers

NM_001009944.3

p.L2046P

c.6137T>C

1 paper

NM_001009944.3

p.L2046delFs

c.6137delA

1 paper

NM_001009944.3

p.A2042fs

c.6124_6125fs

1 paper

NM_001009944.3

p.A2042delFs

c.6124_6125delGC

1 paper

NM_001009944.3

p.A2042D

c.6125C>A

1 paper

NM_001009944.3

p.A2042P

c.6124G>C

2 papers

NM_001009944.3

p.A2042T

c.6124G>A

1 paper

NM_001009944.3

p.R2041fs

c.6121_6122fs