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.A1245T

c.3733G>A

Surrounding Variants

1 paper

NM_138694.4

p.A1245V

c.3734C>T

1 paper

NM_138694.4

p.E1244*

c.3730G>T

1 paper

NM_138694.4

p.E1244K

c.3730G>A

1 paper

NM_138694.4

p.T1243T

c.3729G>A

1 paper

NM_138694.4

p.T1243M

c.3728C>T

1 paper

NM_138694.4

p.W1248*

c.3743G>A

1 paper

NM_138694.4

p.W1248*

c.3744G>A

7 papers

NM_138694.4

p.C1249W

c.3747T>G

1 paper

NM_138694.4

p.L1242_E1250del9

c.3724_3749del27

1 paper

NM_138694.4

p.T1251N

c.3752C>A

4 papers

NM_138694.4

p.L1252L

c.3756G>C

2 papers

NM_138694.4

p.C1237Y

c.3710G>A