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.V3095I

c.9283G>A

Surrounding Variants

1 paper

NM_138694.4

p.G3093D

c.9278G>A

3 papers

NM_138694.4

p.A3097T

c.9289G>A

2 papers

NM_138694.4

p.A3097E

c.9290C>A

1 paper

NM_138694.4

p.G3098R

c.9292G>A

1 paper

NM_138694.4

p.R3101I

c.9302G>T

1 paper

NM_138694.4

p.R3101T

c.9302G>C

3 papers

NM_138694.4

p.D3088N

c.9262G>A

2 papers

NM_138694.4

p.G3103D

c.9308G>A

1 paper

NM_138694.4

p.F3104C

c.9311T>G

1 paper

NM_138694.4

p.Q3085*

c.9253C>T

1 paper

NM_138694.4

p.V3083M

c.9247G>A

10 papers

NM_138694.4

p.R3107*

c.9319C>T