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.D1259fs

c.3775_3776fs

Surrounding Variants

1 paper

NM_138694.4

p.D1259H

c.3775G>C

1 paper

NM_138694.4

p.P1258S

c.3772C>T

2 papers

NM_138694.4

p.G1261G

c.3783C>T

14 papers

NM_138694.4

p.A1262V

c.3785C>T

1 paper

NM_138694.4

p.P1255_Q1256del2

c.3763_3767del6

2 papers

NM_138694.4

p.Q1256fs

c.3766_3767fs

1 paper

NM_138694.4

p.Q1256Q

c.3768G>A

13 papers

NM_138694.4

p.Q1256delFs

c.3766delG

4 papers

NM_138694.4

p.A1254delFs

c.3761_3762delGG

6 papers

NM_138694.4

p.Q1256fs

c.3766_3767fs

1 paper

NM_138694.4

p.Q1256*

c.3766C>T

2 papers

NM_138694.4

p.A1254_P1255Fs

c.3762_3763delinsGFs