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

30 papers

NM_138694.4

p.L1965insFs

c.5895dupA

Surrounding Variants

11 papers

NM_138694.4

p.L1966fs

c.5896_5897fs

2 papers

NM_138694.4

p.L1966L

c.5896C>T

2 papers

NM_138694.4

p.L1966insFs

c.5896dupC

1 paper

NM_138694.4

p.L1965fs

c.5893_5894fs

12 papers

NM_138694.4

p.L1966fs

c.5896_5897fs

1 paper

NM_138694.4

p.N1964D

c.5890A>G

1 paper

NM_138694.4

p.I1962insFs

c.5884dupA

2 papers

NM_138694.4

p.T1960R

c.5879C>G

1 paper

NM_138694.4

p.T1960A

c.5878A>G

1 paper

NM_138694.4

p.G1970Splc

c.5908+9A>C

1 paper

NM_138694.4

p.T1958S

c.5873C>G

1 paper

NM_138694.4

p.T1958S

c.5872A>T