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

4 papers

NM_001009944.3

p.W1582*

c.4745G>A

Surrounding Variants

2 papers

NM_001009944.3

p.W1582S

c.4745G>C

1 paper

NM_001009944.3

p.R1579_S1581del3

c.4735_4742del9

3 papers

NM_001009944.3

p.W1582*

c.4746G>A

1 paper

NM_001009944.3

p.S1581F

c.4742C>T

1 paper

NM_001009944.3

p.S1581Y

c.4742C>A

1 paper

NM_001009944.3

p.S1581P

c.4741T>C

1 paper

NM_001009944.3

p.L1584F

c.4750C>T

2 papers

NM_001009944.3

p.Y1580C

c.4739A>G

2 papers

NM_001009944.3

p.Y1580H

c.4738T>C

2 papers

NM_001009944.3

p.R1579P

c.4736G>C

1 paper

NM_001009944.3

p.C1585fs

c.4753_4754fs

1 paper

NM_001009944.3

p.C1585*

c.4755T>A