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.V1701I

c.5101G>A

Surrounding Variants

1 paper

NM_138694.4

p.G1697D

c.5090G>A

1 paper

NM_138694.4

p.G1697C

c.5089G>T

1 paper

NM_138694.4

p.S1696A

c.5086T>G

1 paper

NM_138694.4

p.S1708Y

c.5123C>A

1 paper

NM_138694.4

p.V1693_G1694ins9

c.5077_5081ins27

9 papers

NM_138694.4

p.L1709F

c.5125C>T

2 papers

NM_138694.4

p.C1692Y

c.5075G>A

1 paper

NM_138694.4

p.P1710S

c.5128C>T

2 papers

NM_138694.4

p.P1710L

c.5129C>T

1 paper

NM_138694.4

p.P1691P

c.5073C>A

1 paper

NM_138694.4

p.S1690P

c.5068T>C

14 papers

NM_138694.4

p.G1712R

c.5134G>C