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.G1820R

c.5458G>A

Surrounding Variants

1 paper

NM_001009944.3

p.G1820R

c.5458G>C

1 paper

NM_001009944.3

p.A1819S

c.5455G>T

1 paper

NM_001009944.3

p.A1818A

c.5454G>A

1 paper

NM_001009944.3

p.V1817M

c.5449G>A

1 paper

NM_001009944.3

p.V1823delFs

c.5468_5469delCA

1 paper

NM_001009944.3

p.V1823_P1824del2

c.5467_5471del6

3 papers

NM_001009944.3

p.W1826*

c.5477G>A

1 paper

NM_001009944.3

p.G1813fs

c.5437_5438fs

2 papers

NM_001009944.3

p.W1826*

c.5478G>A

1 paper

NM_001009944.3

p.G1827W

c.5479G>T

1 paper

NM_001009944.3

p.P1812delFs

c.5436delG

1 paper

NM_001009944.3

p.P1812L

c.5435C>T