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

12 papers

NM_138694.4

p.V1741M

c.5221G>A

Surrounding Variants

1 paper

NM_138694.4

p.T1742M

c.5225C>T

1 paper

NM_138694.4

p.T1742T

c.5226G>A

3 papers

NM_138694.4

p.N1744H

c.5230A>C

2 papers

NM_138694.4

p.N1744S

c.5231A>G

1 paper

NM_138694.4

p.V1736fs

c.5206_5207fs

1 paper

NM_138694.4

p.G1746Splc

c.5236+1G>T

1 paper

NM_138694.4

p.G1746Splc

c.5236+1G>A

1 paper

NM_138694.4

p.G1746Splc

c.5236+2T>C

1 paper

NM_138694.4

p.T1733T

c.5199C>A

3 papers

NM_138694.4

p.G1746Splc

c.5236+14A>G

1 paper

NM_138694.4

p.G1746Splc

c.5236+22G>T

1 paper

NM_138694.4

p.A1726S

c.5176G>T