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

3 papers

NM_138694.4

p.E2332_G2333Splc

c.6996+4A>T

Surrounding Variants

1 paper

NM_138694.4

p.E2332_G2333Splc

c.6996+5G>A

1 paper

NM_138694.4

p.E2332_G2333Splc

c.6996+7T>A

1 paper

NM_138694.4

p.E2332_G2333Splc

c.6996+8G>A

1 paper

NM_138694.4

p.E2332_G2333Splc

c.6996+9T>A

1 paper

NM_138694.4

p.I2331fs

c.6991_6992fs

24 papers

NM_138694.4

p.I2331K

c.6992T>A

1 paper

NM_138694.4

p.I2331L

c.6991A>T

1 paper

NM_138694.4

p.I2331L

c.6991A>C

1 paper

NM_138694.4

p.V2330D

c.6989T>A

4 papers

NM_138694.4

p.N2329S

c.6986A>G

1 paper

NM_138694.4

p.C2325C

c.6975C>T

1 paper

NM_138694.4

p.Y2323_I2324insFs

c.6969_6970insGC