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

2 papers

NM_001009944.3

p.G2919R

c.8755G>A

Surrounding Variants

2 papers

NM_001009944.3

p.G2919R

c.8755G>C

1 paper

NM_001009944.3

p.A2918fs

c.8752_8753fs

1 paper

NM_001009944.3

p.G2919fs

c.8755_8756fs

1 paper

NM_001009944.3

p.L2920fs

c.8758_8759fs

1 paper

NM_001009944.3

p.L2920delFs

c.8758delG

1 paper

NM_001009944.3

p.A2918_L2920delFs

c.8754_8758del5

5 papers

NM_001009944.3

p.A2917V

c.8750C>T

1 paper

NM_001009944.3

p.H2921Y

c.8761C>T

2 papers

NM_001009944.3

p.P2916P

c.8748T>C

2 papers

NM_001009944.3

p.H2921P

c.8762A>C

1 paper

NM_001009944.3

p.H2921H

c.8763T>C

2 papers

NM_001009944.3

p.N2915S

c.8744A>G