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

5 papers

NM_138694.4

p.A1254fs

c.3760_3761fs

Surrounding Variants

1 paper

NM_138694.4

p.A1254G

c.3761C>G

1 paper

NM_138694.4

p.A1254D

c.3761C>A

3 papers

NM_138694.4

p.A1254delins

c.3762delinsG

8 papers

NM_138694.4

p.A1254fs

c.3760_3761fs

16 papers

NM_138694.4

p.A1254Fs

c.3761_3762delinsGFs

2 papers

NM_138694.4

p.A1254_P1255Fs

c.3762_3763delinsGFs

1 paper

NM_138694.4

p.P1255fs

c.3763_3764fs

4 papers

NM_138694.4

p.L1252L

c.3756G>C

6 papers

NM_138694.4

p.Q1256fs

c.3766_3767fs

1 paper

NM_138694.4

p.Q1256*

c.3766C>T

13 papers

NM_138694.4

p.Q1256delFs

c.3766delG

4 papers

NM_138694.4

p.A1254delFs

c.3761_3762delGG