Varaico: Literature-Extracted Genetic Variants

PKHD1

1,102 papers

RefSeq Summary

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing...

Pfam Domains

TIGaa 259–335UCSCIPT/TIG domain

TIGaa 931–1012UCSCIPT/TIG domain

TIGaa 1019–1102UCSCIPT/TIG domain

TIGaa 1108–1192UCSCIPT/TIG domain

TIGaa 1197–1278UCSCIPT/TIG domain

TIGaa 1389–1480UCSCIPT/TIG domain

Gene Aliases

HGNC Name

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

HGNC Previous Symbol

TIGM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_138694.4

p.D803Splc

c.2407+37A>T

Surrounding Variants

1 paper

NM_138694.4

p.D803Splc

c.2407+42T>G

5 papers

NM_138694.4

p.D803Splc

c.2407+50C>T

3 papers

NM_138694.4

p.D803Splc

c.2407+53A>G

1 paper

NM_138694.4

p.D803Splc

c.2407+9G>A

1 paper

NM_138694.4

p.D803Splc

c.2407+7G>A

1 paper

NM_138694.4

p.D803Splc

c.2407+5A>G

1 paper

NM_138694.4

p.D803Splc

c.2407+4A>G

1 paper

NM_138694.4

p.D803Splc

c.2407+1G>A

1 paper

NM_138694.4

p.D803ins4

c.2407_2408ins12

1 paper

NM_138694.4

p.V800A

c.2399T>C

2 papers

NM_138694.4

p.T799T

c.2397A>G

1 paper

NM_138694.4

p.N798insFs

c.2393_2394insCT