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.N1494fs

c.4480_4481fs

Surrounding Variants

6 papers

NM_138694.4

p.N1494delFs

c.4481delT

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.S1496fs

c.4486_4487fs

1 paper

NM_138694.4

p.T1495delFs

c.4485delG

1 paper

NM_138694.4

p.G1497_S1498insG

c.4489_4493ins3

1 paper

NM_138694.4

p.G1497R

c.4489G>C

2 papers

NM_138694.4

p.G1497R

c.4489G>A

1 paper

NM_138694.4

p.L1491fs

c.4471_4472fs

1 paper

NM_138694.4

p.S1498Fs

c.4492_4494delinsAGFs

1 paper

NM_138694.4

p.L1499L

c.4495C>T

2 papers

NM_138694.4

p.P1486L

c.4457C>T