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

2 papers

NM_138694.4

p.P3652delFs

c.10955delG

Surrounding Variants

1 paper

NM_138694.4

p.P3652fs

c.10954_10955fs

1 paper

NM_138694.4

p.A3649_P3652delFs

c.10945_10955del11

1 paper

NM_138694.4

p.A3649fs

c.10945_10946fs

1 paper

NM_138694.4

p.R3648fs

c.10942_10943fs

1 paper

NM_138694.4

p.E3656E

c.10968A>G

1 paper

NM_138694.4

p.R3648insFs

c.10942_10943ins7

2 papers

NM_138694.4

p.I3658delFs

c.10972_10973delAT

1 paper

NM_138694.4

p.V3661L

c.10981G>T

1 paper

NM_138694.4

p.V3661L

c.10981G>C

6 papers

NM_138694.4

p.M3642I

c.10926G>T

6 papers

NM_138694.4

p.M3642I

c.10926G>C

6 papers

NM_138694.4

p.M3642I

c.10926G>A