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

2 papers

NM_138694.4

p.K411_V412Splc

c.1234-5C>T

Surrounding Variants

1 paper

NM_138694.4

p.K411_V412Splc

c.1234-4A>G

1 paper

NM_138694.4

p.K411_V412Splc

c.1234-9T>C

1 paper

NM_138694.4

p.K411_V412Splc

c.1234-10T>C

4 papers

NM_138694.4

p.K411_V412Splc

c.1234-10T>A

1 paper

NM_138694.4

p.V414V

c.1242G>T

1 paper

NM_138694.4

p.A415T

c.1243G>A

1 paper

NM_138694.4

p.V414_I417del0

c.1242_1250del9

1 paper

NM_138694.4

p.S418I

c.1253G>T

1 paper

NM_138694.4

p.V419delins

c.1255_1256delinsTC

1 paper

NM_138694.4

p.V419V

c.1257C>T

1 paper

NM_138694.4

p.V419delFs

c.1255_1256delAC

1 paper

NM_138694.4

p.G420D

c.1259G>A