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.V1575V

c.4725G>A

Surrounding Variants

2 papers

NM_138694.4

p.P1580S

c.4738C>T

1 paper

NM_138694.4

p.F1569C

c.4706T>G

1 paper

NM_138694.4

p.R1567I

c.4700G>T

1 paper

NM_138694.4

p.S1584I

c.4751G>T

1 paper

NM_138694.4

p.S1584T

c.4751G>C

1 paper

NM_138694.4

p.S1566insFs

c.4697_4698insA

3 papers

NM_138694.4

p.C1561Y

c.4682G>A

1 paper

NM_138694.4

p.L1590P

c.4769T>C

1 paper

NM_138694.4

p.C1561fs

c.4681_4682fs

1 paper

NM_138694.4

p.G1558G

c.4674G>A

1 paper

NM_138694.4

p.E1594Q

c.4780G>C

1 paper

NM_138694.4

p.T1555T

c.4665A>C