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.L859L

c.2577G>A

Surrounding Variants

1 paper

NM_138694.4

p.N861N

c.2583T>C

1 paper

NM_138694.4

p.G857A

c.2570G>C

2 papers

NM_138694.4

p.R864_V865Splc

c.2592+1G>T

2 papers

NM_138694.4

p.R864_V865Splc

c.2592+1G>C

1 paper

NM_138694.4

p.R864_V865Splc

c.2592+5G>T

1 paper

NM_138694.4

p.R864_V865Splc

c.2592+6T>C

1 paper

NM_138694.4

p.W848_W852delFs

c.2542_2555del14

1 paper

NM_138694.4

p.R864_V865Splc

c.2592+7A>G

1 paper

NM_138694.4

p.S851insFs

c.2553dupC

1 paper

NM_138694.4

p.W852R

c.2554T>C

1 paper

NM_138694.4

p.W852R

c.2554T>A

1 paper

NM_138694.4

p.R864_V865Splc

c.2592+9A>G