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.W1243*

c.3728G>A

Surrounding Variants

3 papers

NM_001009944.3

p.W1243*

c.3729G>A

1 paper

NM_001009944.3

p.T1244P

c.3730A>C

1 paper

NM_001009944.3

p.T1242M

c.3725C>T

1 paper

NM_001009944.3

p.T1242R

c.3725C>G

2 papers

NM_001009944.3

p.N1240_I1241del2

c.3718_3722del6

2 papers

NM_001009944.3

p.F1245fs

c.3733_3734fs

1 paper

NM_001009944.3

p.I1241S

c.3722T>G

1 paper

NM_001009944.3

p.I1241N

c.3722T>A

9 papers

NM_001009944.3

p.N1240del1

c.3718_3719delGTT

1 paper

NM_001009944.3

p.N1240S

c.3719A>G

1 paper

NM_001009944.3

p.N1240D

c.3718A>G

1 paper

NM_001009944.3

p.N1240H

c.3718A>C