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

3 papers

NM_001009944.3

p.W2882R

c.8644T>C

Surrounding Variants

3 papers

NM_001009944.3

p.W2882R

c.8644T>A

1 paper

NM_001009944.3

p.S2880delFs

c.8638_8639delGA

1 paper

NM_001009944.3

p.S2880L

c.8639C>T

1 paper

NM_001009944.3

p.A2884T

c.8650G>A

1 paper

NM_001009944.3

p.S2880fs

c.8638_8639fs

1 paper

NM_001009944.3

p.R2885W

c.8653C>T

1 paper

NM_001009944.3

p.N2878fs

c.8632_8633fs

1 paper

NM_001009944.3

p.D2881_R2885delFs

c.8642_8655del14

1 paper

NM_001009944.3

p.P2877delFs

c.8631delG

1 paper

NM_001009944.3

p.H2887fs

c.8659_8660fs

2 papers

NM_001009944.3

p.H2887delFs

c.8659delG

3 papers

NM_001009944.3

p.R2888C

c.8662C>T