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.R1927K

c.5780G>A

Surrounding Variants

2 papers

NM_138694.4

p.W1928L

c.5783G>T

1 paper

NM_138694.4

p.R1926W

c.5776C>T

1 paper

NM_138694.4

p.S1929P

c.5785T>C

1 paper

NM_138694.4

p.C1925*

c.5775C>A

1 paper

NM_138694.4

p.S1929F

c.5786C>T

1 paper

NM_138694.4

p.F1924L

c.5772C>G

2 papers

NM_138694.4

p.F1924L

c.5772C>A

1 paper

NM_138694.4

p.F1924L

c.5770T>C

1 paper

NM_138694.4

p.S1929_R1930del0

c.5785_5790del6

1 paper

NM_138694.4

p.Q1923L

c.5768A>T

1 paper

NM_138694.4

p.S1921_L1922delFs

c.5761_5765del5

1 paper

NM_138694.4

p.L1922*

c.5765T>G