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.V3569D

c.10706T>A

Surrounding Variants

3 papers

NM_138694.4

p.S3570*

c.10709C>G

3 papers

NM_138694.4

p.S3570*

c.10709C>A

1 paper

NM_138694.4

p.V3571delFs

c.10711delC

1 paper

NM_138694.4

p.E3573K

c.10717G>A

1 paper

NM_138694.4

p.K3574N

c.10722A>T

1 paper

NM_138694.4

p.K3574N

c.10722A>C

1 paper

NM_138694.4

p.E3573insFs

c.10719dupA

1 paper

NM_138694.4

p.H3562N

c.10684C>A

1 paper

NM_138694.4

p.S3560C

c.10679C>G

1 paper

NM_138694.4

p.L3581I

c.10741C>A

1 paper

NM_138694.4

p.E3582K

c.10744G>A

1 paper

NM_138694.4

p.R3556H

c.10667G>A