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.I2297T

c.6890T>C

Surrounding Variants

5 papers

NM_138694.4

p.N2300N

c.6900C>T

2 papers

NM_138694.4

p.N2300K

c.6900C>G

2 papers

NM_138694.4

p.N2300K

c.6900C>A

1 paper

NM_138694.4

p.N2299_N2300delFs

c.6896_6899del4

5 papers

NM_138694.4

p.I2303F

c.6907A>T

1 paper

NM_138694.4

p.S2291L

c.6872C>T

2 papers

NM_138694.4

p.Q2304*

c.6910C>T

2 papers

NM_138694.4

p.W2290L

c.6869G>T

1 paper

NM_138694.4

p.D2289Splc

c.6866-1G>C

1 paper

NM_138694.4

p.D2289N

c.6865G>A

1 paper

NM_138694.4

p.D2289Splc

c.6866-4T>C

1 paper

NM_138694.4

p.D2289Splc

c.6866-5A>G