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.V2057D

c.6170T>A

Surrounding Variants

4 papers

NM_001009944.3

p.Q2058*

c.6172C>T

3 papers

NM_001009944.3

p.Q2058R

c.6173A>G

1 paper

NM_001009944.3

p.Q2058P

c.6173A>C

3 papers

NM_001009944.3

p.V2054_L2055del2

c.6160_6164del6

1 paper

NM_001009944.3

p.E2056*

c.6166G>T

2 papers

NM_001009944.3

p.L2055P

c.6164T>C

1 paper

NM_001009944.3

p.D2059V

c.6176A>T

1 paper

NM_001009944.3

p.D2059D

c.6177C>T

2 papers

NM_001009944.3

p.A2060G

c.6179C>G

1 paper

NM_001009944.3

p.T2052fs

c.6154_6155fs

10 papers

NM_001009944.3

p.Q2062*

c.6184C>T

1 paper

NM_001009944.3

p.D2059_V2061del3

c.6175_6182del9