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

23 papers

NM_138694.4

p.R781*

c.2341C>T

Surrounding Variants

1 paper

NM_138694.4

p.R780delFs

c.2339_2340delTC

1 paper

NM_138694.4

p.R781Q

c.2342G>A

1 paper

NM_138694.4

p.R780fs

c.2338_2339fs

2 papers

NM_138694.4

p.R780fs

c.2338_2339fs

1 paper

NM_138694.4

p.Q779delFs

c.2335_2336delTG

1 paper

NM_138694.4

p.R783W

c.2347C>T

2 papers

NM_138694.4

p.R783Q

c.2348G>A

3 papers

NM_138694.4

p.T777M

c.2330C>T

1 paper

NM_138694.4

p.S785I

c.2354G>T

1 paper

NM_138694.4

p.S785N

c.2354G>A

1 paper

NM_138694.4

p.P786T

c.2356C>A

1 paper

NM_138694.4

p.L775L

c.2323C>T