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.L3485fs

c.10453_10454fs

Surrounding Variants

2 papers

NM_138694.4

p.L3486L

c.10456T>C

4 papers

NM_138694.4

p.F3484insFs

c.10452dupT

2 papers

NM_138694.4

p.L3485fs

c.10453_10454fs

1 paper

NM_138694.4

p.R3482P

c.10445G>C

1 paper

NM_138694.4

p.R3482H

c.10445G>A

19 papers

NM_138694.4

p.R3482C

c.10444C>T

1 paper

NM_138694.4

p.S3490T

c.10469G>C

2 papers

NM_138694.4

p.P3478P

c.10434T>A

1 paper

NM_138694.4

p.L3494fs

c.10480_10481fs

2 papers

NM_138694.4

p.L3495F

c.10483C>T

1 paper

NM_138694.4

p.L3495P

c.10484T>C

1 paper

NM_138694.4

p.Q3476*

c.10426C>T