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.I3590F

c.10768A>T

Surrounding Variants

5 papers

NM_138694.4

p.Q3589*

c.10765C>T

4 papers

NM_138694.4

p.N3586_F3587delFs

c.10756_10759del4

3 papers

NM_138694.4

p.N3586fs

c.10756_10757fs

2 papers

NM_138694.4

p.R3596S

c.10788G>T

1 paper

NM_138694.4

p.R3596S

c.10788G>C

1 paper

NM_138694.4

p.E3582K

c.10744G>A

1 paper

NM_138694.4

p.L3581I

c.10741C>A

1 paper

NM_138694.4

p.P3602L

c.10805C>T

1 paper

NM_138694.4

p.P3602H

c.10805C>A

1 paper

NM_138694.4

p.E3573insFs

c.10719dupA

1 paper

NM_138694.4

p.K3574N

c.10722A>T

1 paper

NM_138694.4

p.K3574N

c.10722A>C