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.F42delFs

c.126delA

Surrounding Variants

1 paper

NM_138694.4

p.F42fs

c.124_125fs

1 paper

NM_138694.4

p.D43V

c.128A>T

1 paper

NM_138694.4

p.D43D

c.129T>C

1 paper

NM_138694.4

p.G44Splc

c.130+7T>G

1 paper

NM_138694.4

p.G44Splc

c.130+8G>T

1 paper

NM_138694.4

p.T39I

c.116C>T

1 paper

NM_138694.4

p.G44Splc

c.130+9G>A

1 paper

NM_138694.4

p.T36_I38delFs

c.106_112del7

116 papers

NM_138694.4

p.T36M

c.107C>T

1 paper

NM_138694.4

p.T36insFs

c.106dupA

1 paper

NM_138694.4

p.T36delFs

c.106delT

1 paper

NM_138694.4

p.T36fs

c.106_107fs