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

5 papers

NM_001009944.3

p.T2192fs

c.6574_6575fs

Surrounding Variants

1 paper

NM_001009944.3

p.R2191H

c.6572G>A

1 paper

NM_001009944.3

p.T2192fs

c.6574_6575fs

3 papers

NM_001009944.3

p.R2191C

c.6571C>T

1 paper

NM_001009944.3

p.Y2190F

c.6569A>T

1 paper

NM_001009944.3

p.V2189_Y2190insFs

c.6567_6568dupGT

1 paper

NM_001009944.3

p.R2186_Y2190delFs

c.6558_6568del11

1 paper

NM_001009944.3

p.Y2190fs

c.6568_6569fs

2 papers

NM_001009944.3

p.S2194I

c.6581G>T

7 papers

NM_001009944.3

p.T2192_S2194delFs

c.6574_6580del7

1 paper

NM_001009944.3

p.T2192_S2194delFs

c.6575_6581del7

3 papers

NM_001009944.3

p.C2195fs

c.6583_6584fs

1 paper

NM_001009944.3

p.C2195W

c.6585C>G