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.L3713*

c.11138T>A

Surrounding Variants

2 papers

NM_138694.4

p.L3713*

c.11138T>G

1 paper

NM_138694.4

p.G3711R

c.11131G>C

2 papers

NM_138694.4

p.G3711R

c.11131G>A

1 paper

NM_138694.4

p.M3708V

c.11122A>G

1 paper

NM_138694.4

p.Q3717_S3718del1

c.11151_11153delGAC

1 paper

NM_138694.4

p.S3718del1

c.11152_11153delTGA

1 paper

NM_138694.4

p.L3706R

c.11117T>G

1 paper

NM_138694.4

p.L3706P

c.11117T>C

1 paper

NM_138694.4

p.G3720E

c.11159G>A

1 paper

NM_138694.4

p.K3719_V3721del3

c.11155_11162del9

1 paper

NM_138694.4

p.G3725ins3

c.11174_11175ins9

1 paper

NM_138694.4

p.G3725Splc

c.11174+2T>C