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.V806_Q807insFs

c.2418_2419insC

Surrounding Variants

1 paper

NM_138694.4

p.V806A

c.2417T>C

3 papers

NM_138694.4

p.Q807*

c.2419C>T

1 paper

NM_138694.4

p.Q807K

c.2419C>A

17 papers

NM_138694.4

p.P805L

c.2414C>T

1 paper

NM_138694.4

p.I808delFs

c.2422delT

1 paper

NM_138694.4

p.A810S

c.2428G>T

1 paper

NM_138694.4

p.D803Splc

c.2408-2A>G

1 paper

NM_138694.4

p.H812P

c.2435A>C

1 paper

NM_138694.4

p.H812H

c.2436C>T

1 paper

NM_138694.4

p.D803Splc

c.2408-12C>G

1 paper

NM_138694.4

p.D803Splc

c.2408-13C>G

1 paper

NM_138694.4

p.N819_N820insT

c.2455_2459ins3