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

2 papers

NM_138694.4

p.G219G

c.657C>T

Surrounding Variants

1 paper

NM_138694.4

p.D220N

c.658G>A

1 paper

NM_138694.4

p.G219D

c.656G>A

1 paper

NM_138694.4

p.G219C

c.655G>T

1 paper

NM_138694.4

p.G219S

c.655G>A

1 paper

NM_138694.4

p.G219_D220delFs

c.656_659del4

3 papers

NM_138694.4

p.E218G

c.653A>G

7 papers

NM_138694.4

p.E218K

c.652G>A

1 paper

NM_138694.4

p.Y221C

c.662A>G

1 paper

NM_138694.4

p.V217V

c.651G>A

1 paper

NM_138694.4

p.Y221*

c.663C>G

1 paper

NM_138694.4

p.Y221insFs

c.662dupA

1 paper

NM_138694.4

p.Y221*

c.663C>A