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.W3077C

c.9231G>T

Surrounding Variants

1 paper

NM_138694.4

p.W3077C

c.9231G>C

1 paper

NM_138694.4

p.W3073_W3077del0

c.9217_9231del15

2 papers

NM_138694.4

p.A3079V

c.9236C>T

2 papers

NM_138694.4

p.A3079delins

c.9235_9236delinsAA

5 papers

NM_138694.4

p.A3079A

c.9237G>A

1 paper

NM_138694.4

p.G3080V

c.9239G>T

2 papers

NM_138694.4

p.I3081V

c.9241A>G

1 paper

NM_138694.4

p.G3080delFs

c.9240delT

1 paper

NM_138694.4

p.W3073*

c.9218G>A

1 paper

NM_138694.4

p.V3083M

c.9247G>A

6 papers

NM_138694.4

p.A3072V

c.9215C>T

1 paper

NM_138694.4

p.A3072T

c.9214G>A