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.P1936A

c.5806C>G

Surrounding Variants

1 paper

NM_138694.4

p.P1940S

c.5818C>T

1 paper

NM_138694.4

p.S1929_R1930del0

c.5785_5790del6

1 paper

NM_138694.4

p.D1942N

c.5824G>A

6 papers

NM_138694.4

p.D1942G

c.5825A>G

1 paper

NM_138694.4

p.S1929F

c.5786C>T

1 paper

NM_138694.4

p.S1929P

c.5785T>C

2 papers

NM_138694.4

p.W1928L

c.5783G>T

1 paper

NM_138694.4

p.D1944Y

c.5830G>T

2 papers

NM_138694.4

p.D1944N

c.5830G>A

1 paper

NM_138694.4

p.R1927K

c.5780G>A

1 paper

NM_138694.4

p.V1946I

c.5836G>A

1 paper

NM_138694.4

p.R1926W

c.5776C>T