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.G3050G

c.9150C>G

Surrounding Variants

3 papers

NM_138694.4

p.I3051T

c.9152T>C

3 papers

NM_138694.4

p.H3049R

c.9146A>G

1 paper

NM_138694.4

p.H3049Y

c.9145C>T

1 paper

NM_138694.4

p.G3055C

c.9163G>T

1 paper

NM_138694.4

p.A3057T

c.9169G>A

1 paper

NM_138694.4

p.A3057D

c.9170C>A

2 papers

NM_138694.4

p.A3057delFs

c.9169delC

1 paper

NM_138694.4

p.A3057fs

c.9169_9170fs

1 paper

NM_138694.4

p.I3042T

c.9125T>C

1 paper

NM_138694.4

p.T3061fs

c.9181_9182fs

1 paper

NM_138694.4

p.N3062fs

c.9184_9185fs

1 paper

NM_138694.4

p.N3062Fs

c.9184_9186delinsTTFs