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.I2826_F2827insFs

c.8477_8481dup5

Surrounding Variants

1 paper

NM_001009944.3

p.L2828fs

c.8482_8483fs

1 paper

NM_001009944.3

p.S2820_I2826del7

c.8458_8477del21

1 paper

NM_001009944.3

p.I2826T

c.8477T>C

1 paper

NM_001009944.3

p.I2826fs

c.8476_8477fs

1 paper

NM_001009944.3

p.L2825_I2826ins1

c.8475_8476insGCT

2 papers

NM_001009944.3

p.L2825P

c.8474T>C

1 paper

NM_001009944.3

p.I2826_S2831delFs

c.8476_8492del17

1 paper

NM_001009944.3

p.Q2824R

c.8471A>G

1 paper

NM_001009944.3

p.Q2824P

c.8471A>C

3 papers

NM_001009944.3

p.Q2824*

c.8470C>T

1 paper

NM_001009944.3

p.Q2824K

c.8470C>A

2 papers

NM_001009944.3

p.V2823del1

c.8467_8469delCAC