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.K2865*

c.8593A>T

Surrounding Variants

1 paper

NM_138694.4

p.P2864L

c.8591C>T

1 paper

NM_138694.4

p.Y2863*

c.8589T>G

1 paper

NM_138694.4

p.Y2863*

c.8589T>A

2 papers

NM_138694.4

p.Y2863C

c.8588A>G

2 papers

NM_138694.4

p.Y2860_S2861delFs

c.8579_8583del5

1 paper

NM_138694.4

p.S2861R

c.8583T>G

1 paper

NM_138694.4

p.S2861R

c.8583T>A

13 papers

NM_138694.4

p.S2861G

c.8581A>G

1 paper

NM_138694.4

p.S2861R

c.8581A>C

2 papers

NM_138694.4

p.Y2860fs

c.8578_8579fs

20 papers

NM_138694.4

p.T2869K

c.8606C>A

1 paper

NM_138694.4

p.W2868_T2869delFs

c.8604_8605delTC