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

6 papers

NM_001009944.3

p.W1874*

c.5622G>A

Surrounding Variants

6 papers

NM_001009944.3

p.W1874*

c.5621G>A

3 papers

NM_001009944.3

p.S1876*

c.5627C>G

3 papers

NM_001009944.3

p.S1876*

c.5627C>A

1 paper

NM_001009944.3

p.S1876fs

c.5626_5627fs

1 paper

NM_001009944.3

p.V1872D

c.5615T>A

1 paper

NM_001009944.3

p.A1877P

c.5629G>C

1 paper

NM_001009944.3

p.A1877fs

c.5629_5630fs

1 paper

NM_001009944.3

p.V1872fs

c.5614_5615fs

2 papers

NM_001009944.3

p.A1877delFs

c.5629delC

1 paper

NM_001009944.3

p.A1871insFs

c.5612dupC

8 papers

NM_001009944.3

p.A1871T

c.5611G>A

1 paper

NM_001009944.3

p.N1867_N1870del4

c.5599_5609del12