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.N2128D

c.6382A>G

Surrounding Variants

1 paper

NM_001009944.3

p.S2127fs

c.6379_6380fs

1 paper

NM_001009944.3

p.S2127delFs

c.6379_6380delGA

2 papers

NM_001009944.3

p.N2128K

c.6384C>G

2 papers

NM_001009944.3

p.N2128K

c.6384C>A

1 paper

NM_001009944.3

p.V2130M

c.6388G>A

1 paper

NM_001009944.3

p.V2124E

c.6371T>A

1 paper

NM_001009944.3

p.F2132L

c.6394T>C

10 papers

NM_001009944.3

p.F2132C

c.6395T>G

1 paper

NM_001009944.3

p.F2132L

c.6396C>G

1 paper

NM_001009944.3

p.F2132L

c.6396C>A

4 papers

NM_001009944.3

p.Q2123*

c.6367C>T

1 paper

NM_001009944.3

p.V2122fs

c.6364_6365fs