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.Q3392H

c.10176G>T

Surrounding Variants

18 papers

NM_138694.4

p.Q3392*

c.10174C>T

2 papers

NM_138694.4

p.C3394R

c.10180T>C

1 paper

NM_138694.4

p.F3388_R3389insFs

c.10164_10165insT

1 paper

NM_138694.4

p.Y3396insFs

c.10188dupC

1 paper

NM_138694.4

p.G3386fs

c.10156_10157fs

1 paper

NM_138694.4

p.L3399M

c.10195C>A

1 paper

NM_138694.4

p.G3386Splc

c.10157-1G>T

1 paper

NM_138694.4

p.G3386Splc

c.10157-1G>A

1 paper

NM_138694.4

p.G3386Splc

c.10157-2A>G

1 paper

NM_138694.4

p.G3386Splc

c.10157-9C>T

14 papers

NM_138694.4

p.Q3407*

c.10219C>T

3 papers

NM_138694.4

p.D3409V

c.10226A>T