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.L1635fs

c.4903_4904fs

Surrounding Variants

1 paper

NM_001009944.3

p.L1635delFs

c.4903delG

5 papers

NM_001009944.3

p.Q1636*

c.4906C>T

1 paper

NM_001009944.3

p.E1633_L1635del3

c.4897_4904del9

3 papers

NM_001009944.3

p.E1633_G1634insFs

c.4899_4900insT

1 paper

NM_001009944.3

p.E1633G

c.4898A>G

1 paper

NM_001009944.3

p.E1633insFs

c.4897_4898insT

1 paper

NM_001009944.3

p.I1632delFs

c.4895_4896delTA

1 paper

NM_001009944.3

p.G1639G

c.4917C>T

1 paper

NM_001009944.3

p.G1639insFs

c.4916dupG

1 paper

NM_001009944.3

p.V1638insFs

c.4912_4913ins4

1 paper

NM_001009944.3

p.G1640fs

c.4918_4919fs

1 paper

NM_001009944.3

p.G1639_G1640delins

c.4917_4918delinsCT