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.T1300K

c.3899C>A

Surrounding Variants

1 paper

NM_138694.4

p.Y1295*

c.3885T>G

1 paper

NM_138694.4

p.Y1295*

c.3885T>A

1 paper

NM_138694.4

p.G1288V

c.3863G>T

5 papers

NM_138694.4

p.V1287G

c.3860T>G

1 paper

NM_138694.4

p.S1313I

c.3938G>T

1 paper

NM_138694.4

p.S1313S

c.3939C>T

1 paper

NM_138694.4

p.S1314fs

c.3940_3941fs

1 paper

NM_138694.4

p.S1314delFs

c.3940delT

2 papers

NM_138694.4

p.L1315R

c.3944T>G

3 papers

NM_138694.4

p.S1283L

c.3848C>T

1 paper

NM_138694.4

p.S1283*

c.3848C>G

1 paper

NM_138694.4

p.S1283*

c.3848C>A