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

6 papers

NM_138694.4

p.M3642I

c.10926G>A

Surrounding Variants

6 papers

NM_138694.4

p.M3642I

c.10926G>T

6 papers

NM_138694.4

p.M3642I

c.10926G>C

1 paper

NM_138694.4

p.M3642T

c.10925T>C

1 paper

NM_138694.4

p.R3638S

c.10914G>T

1 paper

NM_138694.4

p.R3648insFs

c.10942_10943ins7

2 papers

NM_138694.4

p.R3637C

c.10909C>T

1 paper

NM_138694.4

p.R3648fs

c.10942_10943fs

1 paper

NM_138694.4

p.A3649fs

c.10945_10946fs

1 paper

NM_138694.4

p.R3633T

c.10898G>C

1 paper

NM_138694.4

p.R3632delFs

c.10894_10895delCT

1 paper

NM_138694.4

p.P3652fs

c.10954_10955fs

2 papers

NM_138694.4

p.P3652delFs

c.10955delG