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.R3620insFs

c.10859_10860insA

Surrounding Variants

1 paper

NM_138694.4

p.R3620H

c.10859G>A

1 paper

NM_138694.4

p.K3619fs

c.10855_10856fs

3 papers

NM_138694.4

p.K3619delFs

c.10856delT

1 paper

NM_138694.4

p.R3618delFs

c.10852delT

1 paper

NM_138694.4

p.R3618*

c.10852A>T

1 paper

NM_138694.4

p.T3628I

c.10883C>T

1 paper

NM_138694.4

p.Y3631H

c.10891T>C

1 paper

NM_138694.4

p.L3608delFs

c.10823delA

1 paper

NM_138694.4

p.T3607T

c.10821C>A

1 paper

NM_138694.4

p.R3632delFs

c.10894_10895delCT

1 paper

NM_138694.4

p.R3633T

c.10898G>C

2 papers

NM_138694.4

p.R3637C

c.10909C>T