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.G3532A

c.10595G>C

Surrounding Variants

1 paper

NM_138694.4

p.Y3535N

c.10603T>A

1 paper

NM_138694.4

p.Y3535S

c.10604A>C

2 papers

NM_138694.4

p.E3529Q

c.10585G>C

1 paper

NM_138694.4

p.V3520_L3527del8

c.10558_10580del24

1 paper

NM_138694.4

p.N3537H

c.10609A>C

1 paper

NM_138694.4

p.M3539V

c.10615A>G

1 paper

NM_138694.4

p.S3524F

c.10571C>T

1 paper

NM_138694.4

p.N3541Y

c.10621A>T

1 paper

NM_138694.4

p.L3543fs

c.10627_10628fs

2 papers

NM_138694.4

p.L3543W

c.10628T>G

1 paper

NM_138694.4

p.L3543S

c.10628T>C

2 papers

NM_138694.4

p.L3543fs

c.10627_10628fs