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.G1210Splc

c.3629-15G>A

Surrounding Variants

1 paper

NM_138694.4

p.G1210Splc

c.3629-16C>T

1 paper

NM_138694.4

p.G1210Splc

c.3629-6C>T

1 paper

NM_138694.4

p.G1210Splc

c.3629-4T>G

1 paper

NM_138694.4

p.G1210R

c.3628G>C

1 paper

NM_138694.4

p.G1210R

c.3628G>A

1 paper

NM_138694.4

p.G1210E

c.3629G>A

3 papers

NM_138694.4

p.G1210Splc

c.3629-32A>G

1 paper

NM_138694.4

p.I1213V

c.3637A>G

2 papers

NM_138694.4

p.I1219T

c.3656T>C

1 paper

NM_138694.4

p.I1219K

c.3656T>A

1 paper

NM_138694.4

p.R1223M

c.3668G>T

1 paper

NM_138694.4

p.P1225_A1226insFs

c.3675_3676insC