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.P1772insFs

c.5316dupC

Surrounding Variants

3 papers

NM_001009944.3

p.T1773I

c.5318C>T

1 paper

NM_001009944.3

p.P1772P

c.5316C>T

1 paper

NM_001009944.3

p.T1773fs

c.5317_5318fs

1 paper

NM_001009944.3

p.P1772S

c.5314C>T

1 paper

NM_001009944.3

p.F1771delFs

c.5312delA

2 papers

NM_001009944.3

p.G1775S

c.5323G>A

1 paper

NM_001009944.3

p.F1771fs

c.5311_5312fs

1 paper

NM_001009944.3

p.H1769Q

c.5307T>G

1 paper

NM_001009944.3

p.H1769Q

c.5307T>A

6 papers

NM_001009944.3

p.H1769Y

c.5305C>T

1 paper

NM_001009944.3

p.H1777P

c.5330A>C

1 paper

NM_001009944.3

p.T1768S

c.5303C>G