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.V3520I

c.10558G>A

Surrounding Variants

1 paper

NM_138694.4

p.L3519M

c.10555C>A

1 paper

NM_138694.4

p.P3516S

c.10546C>T

1 paper

NM_138694.4

p.S3524F

c.10571C>T

1 paper

NM_138694.4

p.S3513S

c.10539T>C

1 paper

NM_138694.4

p.V3520_L3527del8

c.10558_10580del24

2 papers

NM_138694.4

p.E3529Q

c.10585G>C

1 paper

NM_138694.4

p.G3532A

c.10595G>C

5 papers

NM_138694.4

p.H3507H

c.10521C>T

1 paper

NM_138694.4

p.P3506S

c.10516C>T

3 papers

NM_138694.4

p.S3505S

c.10515C>T

9 papers

NM_138694.4

p.S3505R

c.10515C>G

9 papers

NM_138694.4

p.S3505R

c.10515C>A