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.Y837*

c.2511C>A

Surrounding Variants

1 paper

NM_001009944.3

p.R835_Y837insFs

c.2505_2511dup7

1 paper

NM_001009944.3

p.V838fs

c.2512_2513fs

1 paper

NM_001009944.3

p.Y837F

c.2510A>T

1 paper

NM_001009944.3

p.L836L

c.2508C>T

2 papers

NM_001009944.3

p.L836L

c.2508C>G

1 paper

NM_001009944.3

p.L836P

c.2507T>C

1 paper

NM_001009944.3

p.P839S

c.2515C>T

1 paper

NM_001009944.3

p.V838delFs

c.2514delC

1 paper

NM_001009944.3

p.T840fs

c.2518_2519fs

1 paper

NM_001009944.3

p.T840insFs

c.2519_2520insC

1 paper

NM_001009944.3

p.D833D

c.2499C>T

1 paper

NM_001009944.3

p.G842insFs

c.2524_2525insCG