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.V3036E

c.9107T>A

Surrounding Variants

8 papers

NM_138694.4

p.V3036G

c.9107T>G

1 paper

NM_138694.4

p.G3035insFs

c.9104dupG

1 paper

NM_138694.4

p.G3035delFs

c.9104delC

1 paper

NM_138694.4

p.I3042T

c.9125T>C

1 paper

NM_138694.4

p.H3029P

c.9086A>C

1 paper

NM_138694.4

p.H3029Y

c.9085C>T

1 paper

NM_138694.4

p.G3026E

c.9077G>A

1 paper

NM_138694.4

p.H3049Y

c.9145C>T

3 papers

NM_138694.4

p.H3049R

c.9146A>G

1 paper

NM_138694.4

p.Q3022P

c.9065A>C

1 paper

NM_138694.4

p.G3050G

c.9150C>G

3 papers

NM_138694.4

p.I3051T

c.9152T>C