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.E1448D

c.4344G>T

Surrounding Variants

2 papers

NM_138694.4

p.E1448G

c.4343A>G

1 paper

NM_138694.4

p.D1450H

c.4348G>C

1 paper

NM_138694.4

p.L1452fs

c.4354_4355fs

2 papers

NM_138694.4

p.Q1444*

c.4330C>T

1 paper

NM_138694.4

p.G1454R

c.4360G>A

1 paper

NM_138694.4

p.C1443Y

c.4328G>A

1 paper

NM_138694.4

p.I1441_L1442insFs

c.4323_4324insTT

1 paper

NM_138694.4

p.L1442fs

c.4324_4325fs

1 paper

NM_138694.4

p.I1441I

c.4323T>C

1 paper

NM_138694.4

p.I1441delFs

c.4321delT

1 paper

NM_138694.4

p.I1441fs

c.4321_4322fs

1 paper

NM_138694.4

p.V1461G

c.4382T>G