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.H24Y

c.70C>T

Surrounding Variants

1 paper

NM_138694.4

p.L23_H24insFs

c.69_70insG

1 paper

NM_138694.4

p.I25V

c.73A>G

1 paper

NM_138694.4

p.I25N

c.74T>A

1 paper

NM_138694.4

p.E26Q

c.76G>C

1 paper

NM_138694.4

p.S22insFs

c.64_65insT

2 papers

NM_138694.4

p.L21V

c.61C>G

1 paper

NM_138694.4

p.H20L

c.59A>T

1 paper

NM_138694.4

p.E28K

c.82G>A

3 papers

NM_138694.4

p.R19H

c.56G>A

1 paper

NM_138694.4

p.E29*

c.85G>T

2 papers

NM_138694.4

p.R19C

c.55C>T

1 paper

NM_138694.4

p.R19G

c.55C>G