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.V3433V

c.10299G>A

Surrounding Variants

1 paper

NM_138694.4

p.V3433A

c.10298T>C

1 paper

NM_138694.4

p.S3435N

c.10304G>A

1 paper

NM_138694.4

p.V3438D

c.10313T>A

1 paper

NM_138694.4

p.Y3428*

c.10284T>G

1 paper

NM_138694.4

p.Y3428*

c.10284T>A

3 papers

NM_138694.4

p.D3439Y

c.10315G>T

1 paper

NM_138694.4

p.Y3428C

c.10283A>G

5 papers

NM_138694.4

p.V3440D

c.10319T>A

1 paper

NM_138694.4

p.K3426N

c.10278G>T

1 paper

NM_138694.4

p.K3426N

c.10278G>C

1 paper

NM_138694.4

p.I3424F

c.10270A>T

1 paper

NM_138694.4

p.P3449S

c.10345C>T