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.D207Y

c.619G>T

Surrounding Variants

1 paper

NM_138694.4

p.P203L

c.608C>T

1 paper

NM_138694.4

p.G211W

c.631G>T

1 paper

NM_138694.4

p.T212A

c.634A>G

1 paper

NM_138694.4

p.C201Splc

c.603-1G>A

2 papers

NM_138694.4

p.L213L

c.637C>T

1 paper

NM_138694.4

p.C201Splc

c.603-2A>G

1 paper

NM_138694.4

p.L210_L213delFs

c.630_637del8

1 paper

NM_138694.4

p.C201Splc

c.603-6C>T

1 paper

NM_138694.4

p.Q214H

c.642G>T

1 paper

NM_138694.4

p.Q214H

c.642G>C

1 paper

NM_138694.4

p.C201Splc

c.603-8T>C

1 paper

NM_138694.4

p.C201Splc

c.603-16T>A