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.G770R

c.2308G>A

Surrounding Variants

1 paper

NM_138694.4

p.G770R

c.2308G>C

1 paper

NM_138694.4

p.G770delFs

c.2309delC

1 paper

NM_138694.4

p.L773M

c.2317C>A

1 paper

NM_138694.4

p.L773L

c.2319G>A

1 paper

NM_138694.4

p.L775L

c.2323C>T

1 paper

NM_138694.4

p.T764I

c.2291C>T

1 paper

NM_138694.4

p.T764A

c.2290A>G

1 paper

NM_138694.4

p.P763S

c.2287C>T

1 paper

NM_138694.4

p.P763T

c.2287C>A

3 papers

NM_138694.4

p.T777M

c.2330C>T

1 paper

NM_138694.4

p.S761F

c.2282C>T

18 papers

NM_138694.4

p.R760H

c.2279G>A