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.L3689F

c.11067G>C

Surrounding Variants

1 paper

NM_138694.4

p.L3689F

c.11067G>T

6 papers

NM_138694.4

p.R3692*

c.11074C>T

1 paper

NM_138694.4

p.Q3697delFs

c.11089delG

2 papers

NM_138694.4

p.L3681*

c.11042T>G

2 papers

NM_138694.4

p.S3679insFs

c.11035dupT

1 paper

NM_138694.4

p.I3678delFs

c.11033delA

2 papers

NM_138694.4

p.S3679fs

c.11035_11036fs

1 paper

NM_138694.4

p.T3675_G3676insC

c.11023_11027ins3

1 paper

NM_138694.4

p.L3706R

c.11117T>G

1 paper

NM_138694.4

p.L3706P

c.11117T>C

1 paper

NM_138694.4

p.M3708V

c.11122A>G

1 paper

NM_138694.4

p.G3711R

c.11131G>C