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.E1360fs

c.4078_4079fs

Surrounding Variants

1 paper

NM_138694.4

p.L1359_E1360insFs

c.4075_4078dup4

1 paper

NM_138694.4

p.L1356I

c.4066C>A

2 papers

NM_138694.4

p.Y1364C

c.4091A>G

1 paper

NM_138694.4

p.S1353T

c.4057T>A

1 paper

NM_138694.4

p.C1352Y

c.4055G>A

2 papers

NM_138694.4

p.R1369C

c.4105C>T

1 paper

NM_138694.4

p.R1369insFs

c.4105_4106insC

1 paper

NM_138694.4

p.R1369H

c.4106G>A

1 paper

NM_138694.4

p.S1348N

c.4043G>A

2 papers

NM_138694.4

p.V1347M

c.4039G>A

1 paper

NM_138694.4

p.M1373R

c.4118T>G

1 paper

NM_138694.4

p.M1373insFs

c.4118dupT