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.S3187del1

c.9559_9561delAGA

Surrounding Variants

1 paper

NM_138694.4

p.S3187delFs

c.9559delA

1 paper

NM_138694.4

p.S3187P

c.9559T>C

1 paper

NM_138694.4

p.A3188_P3189del1

c.9564_9566delGGA

1 paper

NM_138694.4

p.N3191T

c.9572A>C

1 paper

NM_138694.4

p.Y3184insFs

c.9550dupT

1 paper

NM_138694.4

p.Y3184fs

c.9550_9551fs

1 paper

NM_138694.4

p.S3192F

c.9575C>T

1 paper

NM_138694.4

p.S3192C

c.9575C>G

1 paper

NM_138694.4

p.S3192S

c.9576C>T

1 paper

NM_138694.4

p.S3192insFs

c.9576dupC

3 papers

NM_138694.4

p.V3193I

c.9577G>A

1 paper

NM_138694.4

p.V3182A

c.9545T>C