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.G2933Splc

c.8798-8T>C

Surrounding Variants

1 paper

NM_138694.4

p.G2933Splc

c.8798-7G>A

1 paper

NM_138694.4

p.G2933Splc

c.8798-10A>T

1 paper

NM_138694.4

p.G2933Splc

c.8798-10A>G

1 paper

NM_138694.4

p.G2933Splc

c.8798-2A>T

1 paper

NM_138694.4

p.G2933fs

c.8797_8798fs

2 papers

NM_138694.4

p.G2933Splc

c.8798-19A>C

1 paper

NM_138694.4

p.V2937V

c.8811C>T

2 papers

NM_138694.4

p.T2938M

c.8813C>T

3 papers

NM_138694.4

p.R2942*

c.8824C>T

1 paper

NM_138694.4

p.R2942Q

c.8825G>A

2 papers

NM_138694.4

p.I2944fs

c.8830_8831fs

3 papers

NM_138694.4

p.H2943_I2944insFs

c.8829_8830insC