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.N1109delFs

c.3327delA

Surrounding Variants

1 paper

NM_001009944.3

p.N1109fs

c.3325_3326fs

1 paper

NM_001009944.3

p.F1111S

c.3332T>C

1 paper

NM_001009944.3

p.S1108delFs

c.3323delG

1 paper

NM_001009944.3

p.A1107insFs

c.3321dupA

1 paper

NM_001009944.3

p.S1108fs

c.3322_3323fs

1 paper

NM_001009944.3

p.E1112*

c.3334G>T

2 papers

NM_001009944.3

p.V1105_L1106del2

c.3313_3317del6

1 paper

NM_001009944.3

p.A1107S

c.3319G>T

3 papers

NM_001009944.3

p.L1106V

c.3316C>G

1 paper

NM_001009944.3

p.L1114R

c.3341T>G

1 paper

NM_001009944.3

p.V1105fs

c.3313_3314fs

1 paper

NM_001009944.3

p.V1105G

c.3314T>G