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

8 papers

NM_001009944.3

p.G1319R

c.3955G>A

Surrounding Variants

8 papers

NM_001009944.3

p.G1319R

c.3955G>C

1 paper

NM_001009944.3

p.P1321delFs

c.3962delG

1 paper

NM_001009944.3

p.A1315D

c.3944C>A

2 papers

NM_001009944.3

p.A1315P

c.3943G>C

1 paper

NM_001009944.3

p.L1313L

c.3939C>A

1 paper

NM_001009944.3

p.Y1324*

c.3972C>G

2 papers

NM_001009944.3

p.Y1324*

c.3972C>A

1 paper

NM_001009944.3

p.R1312delFs

c.3934_3935delCG

2 papers

NM_001009944.3

p.R1312Q

c.3935G>A

1 paper

NM_001009944.3

p.F1326insFs

c.3976_3977insCT

1 paper

NM_001009944.3

p.R1312fs

c.3934_3935fs

1 paper

NM_001009944.3

p.F1326fs

c.3976_3977fs