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.S1551*

c.4652C>G

Surrounding Variants

1 paper

NM_138694.4

p.S1551*

c.4652C>A

1 paper

NM_138694.4

p.H1548delFs

c.4644delG

1 paper

NM_138694.4

p.T1555T

c.4665A>C

1 paper

NM_138694.4

p.G1558G

c.4674G>A

1 paper

NM_138694.4

p.C1561fs

c.4681_4682fs

3 papers

NM_138694.4

p.C1561Y

c.4682G>A

1 paper

NM_138694.4

p.R1541R

c.4621A>C

1 paper

NM_138694.4

p.Q1539insFs

c.4616_4617insA

1 paper

NM_138694.4

p.Q1539Q

c.4617G>A

1 paper

NM_138694.4

p.S1566insFs

c.4697_4698insA

2 papers

NM_138694.4

p.V1536I

c.4606G>A

1 paper

NM_138694.4

p.R1567I

c.4700G>T