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.H1515delFs

c.4545delG

Surrounding Variants

9 papers

NM_001009944.3

p.A1516T

c.4546G>A

1 paper

NM_001009944.3

p.H1515D

c.4543C>G

1 paper

NM_001009944.3

p.H1515fs

c.4543_4544fs

1 paper

NM_001009944.3

p.Y1517S

c.4550A>C

2 papers

NM_001009944.3

p.Y1517Y

c.4551C>T

12 papers

NM_001009944.3

p.Y1517*

c.4551C>G

2 papers

NM_001009944.3

p.Y1517insFs

c.4550dupA

13 papers

NM_001009944.3

p.Y1517*

c.4551C>A

1 paper

NM_001009944.3

p.V1513insFs

c.4537dupG

1 paper

NM_001009944.3

p.V1513fs

c.4537_4538fs

1 paper

NM_001009944.3

p.E1512*

c.4534G>T

1 paper

NM_001009944.3

p.T1520delFs

c.4560delT