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.W3255*

c.9764G>A

Surrounding Variants

1 paper

NM_138694.4

p.W3255S

c.9764G>C

2 papers

NM_138694.4

p.W3255*

c.9765G>A

1 paper

NM_138694.4

p.Q3257_E3258delFs

c.9771_9774del4

1 paper

NM_138694.4

p.W3260*

c.9779G>A

1 paper

NM_138694.4

p.W3260*

c.9780G>A

1 paper

NM_138694.4

p.K3262E

c.9784A>G

1 paper

NM_138694.4

p.K3262_V3263insT

c.9784_9788ins3

8 papers

NM_138694.4

p.V3263A

c.9788T>C

1 paper

NM_138694.4

p.V3263V

c.9789G>T

1 paper

NM_138694.4

p.D3266N

c.9796G>A

1 paper

NM_138694.4

p.H3267P

c.9800A>C

2 papers

NM_138694.4

p.G3242V

c.9725G>T