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.D1720E

c.5160C>G

Surrounding Variants

1 paper

NM_138694.4

p.D1720E

c.5160C>A

2 papers

NM_138694.4

p.G1724V

c.5171G>T

2 papers

NM_138694.4

p.G1724E

c.5171G>A

3 papers

NM_138694.4

p.W1725S

c.5174G>C

1 paper

NM_138694.4

p.V1716I

c.5146G>A

1 paper

NM_138694.4

p.A1726S

c.5176G>T

3 papers

NM_138694.4

p.E1713*

c.5137G>T

14 papers

NM_138694.4

p.G1712R

c.5134G>C

15 papers

NM_138694.4

p.G1712R

c.5134G>A

2 papers

NM_138694.4

p.P1710L

c.5129C>T

1 paper

NM_138694.4

p.P1710S

c.5128C>T

9 papers

NM_138694.4

p.L1709F

c.5125C>T