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.R494G

c.1480C>G

Surrounding Variants

13 papers

NM_138694.4

p.R494*

c.1480C>T

1 paper

NM_138694.4

p.R494L

c.1481G>T

1 paper

NM_138694.4

p.R494Q

c.1481G>A

1 paper

NM_138694.4

p.I493delFs

c.1479delG

26 papers

NM_138694.4

p.R496*

c.1486C>T

3 papers

NM_138694.4

p.R496P

c.1487G>C

1 paper

NM_138694.4

p.H491Q

c.1473C>G

1 paper

NM_138694.4

p.H491Q

c.1473C>A

1 paper

NM_138694.4

p.H491P

c.1472A>C

1 paper

NM_138694.4

p.A497P

c.1489G>C

1 paper

NM_138694.4

p.E489K

c.1465G>A

4 papers

NM_138694.4

p.R488P

c.1463G>C