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.T3045N

c.9134C>A

Surrounding Variants

7 papers

NM_001009944.3

p.R3046C

c.9136C>T

1 paper

NM_001009944.3

p.R3046P

c.9137G>C

1 paper

NM_001009944.3

p.C3043*

c.9129C>A

2 papers

NM_001009944.3

p.C3043Y

c.9128G>A

1 paper

NM_001009944.3

p.C3043R

c.9127T>C

1 paper

NM_001009944.3

p.H3047Q

c.9141C>A

3 papers

NM_001009944.3

p.L3048F

c.9142C>T

1 paper

NM_001009944.3

p.V3042fs

c.9124_9125fs

4 papers

NM_001009944.3

p.L3048R

c.9143T>G

1 paper

NM_001009944.3

p.V3042A

c.9125T>C

3 papers

NM_001009944.3

p.L3048H

c.9143T>A

1 paper

NM_001009944.3

p.V3042I

c.9124G>A