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.K3134E

c.9400A>G

Surrounding Variants

1 paper

NM_138694.4

p.K3134K

c.9402G>A

2 papers

NM_138694.4

p.H3131Y

c.9391C>T

13 papers

NM_138694.4

p.D3139Y

c.9415G>T

1 paper

NM_138694.4

p.N3140S

c.9419A>G

1 paper

NM_138694.4

p.N3140K

c.9420C>A

1 paper

NM_138694.4

p.L3127I

c.9379C>A

2 papers

NM_138694.4

p.R3143I

c.9428G>T

1 paper

NM_138694.4

p.H3124P

c.9371A>C

13 papers

NM_138694.4

p.H3124Y

c.9370C>T

2 papers

NM_138694.4

p.A3123V

c.9368C>T

1 paper

NM_138694.4

p.N3121N

c.9363T>C

1 paper

NM_138694.4

p.G3146V

c.9437G>T