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

58 papers

NM_138694.4

p.R1624W

c.4870C>T

Surrounding Variants

1 paper

NM_138694.4

p.I1623insFs

c.4868_4869dupTC

1 paper

NM_138694.4

p.R1624Q

c.4871G>A

1 paper

NM_138694.4

p.I1623S

c.4868T>G

1 paper

NM_138694.4

p.V1627F

c.4879G>T

1 paper

NM_138694.4

p.A1620_E1621ins4

c.4858_4862ins12

3 papers

NM_138694.4

p.P1628A

c.4882C>G

1 paper

NM_138694.4

p.G1632D

c.4895G>A

3 papers

NM_138694.4

p.T1615M

c.4844C>T

1 paper

NM_138694.4

p.C1613F

c.4838G>T

2 papers

NM_138694.4

p.C1613Y

c.4838G>A

1 paper

NM_138694.4

p.T1612fs

c.4834_4835fs

2 papers

NM_138694.4

p.T1612I

c.4835C>T