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.G2852Splc

c.8555-16C>A

Surrounding Variants

1 paper

NM_138694.4

p.G2852Splc

c.8555-8A>G

1 paper

NM_138694.4

p.G2852Splc

c.8555-2A>G

2 papers

NM_138694.4

p.G2852Splc

c.8555-2A>C

1 paper

NM_138694.4

p.G2852Splc

c.8555-1G>T

1 paper

NM_138694.4

p.G2852Splc

c.8555-1G>A

1 paper

NM_138694.4

p.V2853D

c.8558T>A

1 paper

NM_138694.4

p.Y2854C

c.8561A>G

1 paper

NM_138694.4

p.K2856*

c.8566A>T

2 papers

NM_138694.4

p.Y2860fs

c.8578_8579fs

13 papers

NM_138694.4

p.S2861G

c.8581A>G

1 paper

NM_138694.4

p.S2861R

c.8581A>C

1 paper

NM_138694.4

p.S2861R

c.8583T>G