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.P1486L

c.4457C>T

Surrounding Variants

1 paper

NM_138694.4

p.P1486S

c.4456C>T

1 paper

NM_138694.4

p.A1484T

c.4450G>A

1 paper

NM_138694.4

p.R1481S

c.4443G>T

1 paper

NM_138694.4

p.L1491fs

c.4471_4472fs

2 papers

NM_138694.4

p.F1479_I1480delFs

c.4437_4440del4

1 paper

NM_138694.4

p.I1480K

c.4439T>A

2 papers

NM_138694.4

p.F1479fs

c.4435_4436fs

3 papers

NM_138694.4

p.N1494fs

c.4480_4481fs

1 paper

NM_138694.4

p.S1492_T1493insFs

c.4476_4477insCA

1 paper

NM_138694.4

p.N1494fs

c.4480_4481fs

6 papers

NM_138694.4

p.N1494delFs

c.4481delT

1 paper

NM_138694.4

p.S1496fs

c.4486_4487fs