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.A1267V

c.3800C>T

Surrounding Variants

1 paper

NM_138694.4

p.A1268A

c.3804C>T

1 paper

NM_138694.4

p.P1266T

c.3796C>A

1 paper

NM_138694.4

p.V1269L

c.3805G>T

1 paper

NM_138694.4

p.V1269L

c.3805G>C

1 paper

NM_138694.4

p.V1269M

c.3805G>A

1 paper

NM_138694.4

p.E1270K

c.3808G>A

14 papers

NM_138694.4

p.A1262V

c.3785C>T

2 papers

NM_138694.4

p.G1261G

c.3783C>T

1 paper

NM_138694.4

p.D1259fs

c.3775_3776fs

1 paper

NM_138694.4

p.D1259H

c.3775G>C

1 paper

NM_138694.4

p.P1258S

c.3772C>T

1 paper

NM_138694.4

p.F1277L

c.3829T>C