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.T1612insFs

c.4834dupA

Surrounding Variants

2 papers

NM_138694.4

p.T1612I

c.4835C>T

1 paper

NM_138694.4

p.T1612fs

c.4834_4835fs

1 paper

NM_138694.4

p.Q1610del1

c.4828_4830delCTG

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.Q1611P

c.4832A>C

1 paper

NM_138694.4

p.Q1610K

c.4828C>A

3 papers

NM_138694.4

p.T1615M

c.4844C>T

1 paper

NM_138694.4

p.Y1607H

c.4819T>C

1 paper

NM_138694.4

p.A1620_E1621ins4

c.4858_4862ins12

1 paper

NM_138694.4

p.T1603I

c.4808C>T

1 paper

NM_138694.4

p.Q1601_N1602insFs

c.4801_4804dup4