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.H2227L

c.6680A>T

Surrounding Variants

2 papers

NM_001009944.3

p.G2226E

c.6677G>A

2 papers

NM_001009944.3

p.Y2228C

c.6683A>G

1 paper

NM_001009944.3

p.P2224_V2225delFs

c.6670_6673del4

1 paper

NM_001009944.3

p.P2224del1

c.6670_6671delAGG

1 paper

NM_001009944.3

p.R2220_P2224del5

c.6658_6671del15

3 papers

NM_001009944.3

p.C2229*

c.6687C>A

2 papers

NM_001009944.3

p.P2219_P2224ins2

c.6657_6671dup15

1 paper

NM_001009944.3

p.P2224_C2229delFs

c.6671_6687del17

7 papers

NM_001009944.3

p.P2219_P2224del0

c.6657_6671del15

2 papers

NM_001009944.3

p.F2230C

c.6689T>G

1 paper

NM_001009944.3

p.F2230fs

c.6688_6689fs

1 paper

NM_001009944.3

p.P2224fs

c.6670_6671fs