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.R2955G

c.8863C>G

Surrounding Variants

3 papers

NM_138694.4

p.R2955*

c.8863C>T

1 paper

NM_138694.4

p.R2955L

c.8864G>T

1 paper

NM_138694.4

p.R2955Q

c.8864G>A

1 paper

NM_138694.4

p.T2954S

c.8861C>G

1 paper

NM_138694.4

p.T2954S

c.8860A>T

1 paper

NM_138694.4

p.L2953F

c.8859G>T

1 paper

NM_138694.4

p.L2953F

c.8859G>C

28 papers

NM_138694.4

p.I2957T

c.8870T>C

1 paper

NM_138694.4

p.L2952P

c.8855T>C

1 paper

NM_138694.4

p.G2951V

c.8852G>T

2 papers

NM_138694.4

p.V2950I

c.8848G>A

1 paper

NM_138694.4

p.P2961H

c.8882C>A