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

2 papers

NM_138694.4

p.S3228*

c.9683C>G

Surrounding Variants

2 papers

NM_138694.4

p.S3228*

c.9683C>A

5 papers

NM_138694.4

p.D3230fs

c.9688_9689fs

1 paper

NM_138694.4

p.D3230V

c.9689A>T

12 papers

NM_138694.4

p.D3230fs

c.9688_9689fs

23 papers

NM_138694.4

p.D3230delFs

c.9689delT

1 paper

NM_138694.4

p.L3226fs

c.9676_9677fs

1 paper

NM_138694.4

p.N3225_L3226insFs

c.9675_9676insG

1 paper

NM_138694.4

p.N3225_L3226insFs

c.9675_9676insA

1 paper

NM_138694.4

p.A3224P

c.9670G>C

1 paper

NM_138694.4

p.A3224T

c.9670G>A

1 paper

NM_138694.4

p.P3221P

c.9663G>A

4 papers

NM_138694.4

p.P3221L

c.9662C>T