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.L3116fs

c.9346_9347fs

Surrounding Variants

2 papers

NM_138694.4

p.L3116delFs

c.9348delC

2 papers

NM_138694.4

p.E3115G

c.9344A>G

1 paper

NM_138694.4

p.S3113fs

c.9337_9338fs

1 paper

NM_138694.4

p.S3113delFs

c.9338delG

1 paper

NM_138694.4

p.N3121S

c.9362A>G

1 paper

NM_138694.4

p.N3121N

c.9363T>C

1 paper

NM_138694.4

p.K3110T

c.9329A>C

2 papers

NM_138694.4

p.A3123V

c.9368C>T

13 papers

NM_138694.4

p.H3124Y

c.9370C>T

1 paper

NM_138694.4

p.H3124P

c.9371A>C

3 papers

NM_138694.4

p.R3107P

c.9320G>C

10 papers

NM_138694.4

p.R3107*

c.9319C>T