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.V1461G

c.4382T>G

Surrounding Variants

1 paper

NM_138694.4

p.V1465insFs

c.4395dupC

1 paper

NM_138694.4

p.L1468P

c.4403T>C

1 paper

NM_138694.4

p.G1454R

c.4360G>A

1 paper

NM_138694.4

p.T1469N

c.4406C>A

1 paper

NM_138694.4

p.L1452fs

c.4354_4355fs

1 paper

NM_138694.4

p.E1471K

c.4411G>A

6 papers

NM_138694.4

p.C1472Y

c.4415G>A

1 paper

NM_138694.4

p.C1472fs

c.4414_4415fs

1 paper

NM_138694.4

p.D1450H

c.4348G>C

3 papers

NM_138694.4

p.Q1473*

c.4417C>T

1 paper

NM_138694.4

p.C1472_Q1473Fs

c.4415_4418delinsTATTCCCCTCTFs

1 paper

NM_138694.4

p.E1448D

c.4344G>T