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.S3455delFs

c.10364delG

Surrounding Variants

1 paper

NM_138694.4

p.P3449S

c.10345C>T

1 paper

NM_138694.4

p.P3464H

c.10391C>A

2 papers

NM_138694.4

p.Q3467K

c.10399C>A

4 papers

NM_138694.4

p.I3468V

c.10402A>G

5 papers

NM_138694.4

p.V3440D

c.10319T>A

12 papers

NM_138694.4

p.V3471G

c.10412T>G

1 paper

NM_138694.4

p.V3471A

c.10412T>C

1 paper

NM_138694.4

p.C3472G

c.10414T>G

3 papers

NM_138694.4

p.D3439Y

c.10315G>T

1 paper

NM_138694.4

p.V3438D

c.10313T>A

2 papers

NM_138694.4

p.D3475V

c.10424A>T

1 paper

NM_138694.4

p.S3435N

c.10304G>A