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.V1640V

c.4920A>G

Surrounding Variants

2 papers

NM_138694.4

p.V1640V

c.4920A>C

2 papers

NM_138694.4

p.I1638T

c.4913T>C

1 paper

NM_138694.4

p.E1637K

c.4909G>A

1 paper

NM_138694.4

p.H1646Y

c.4936C>T

1 paper

NM_138694.4

p.I1647_G1648insFs

c.4941_4942insC

1 paper

NM_138694.4

p.G1632D

c.4895G>A

1 paper

NM_138694.4

p.I1650T

c.4949T>C

1 paper

NM_138694.4

p.G1651S

c.4951G>A

3 papers

NM_138694.4

p.Y1652C

c.4955A>G

3 papers

NM_138694.4

p.P1628A

c.4882C>G

1 paper

NM_138694.4

p.V1627F

c.4879G>T

1 paper

NM_138694.4

p.K1654T

c.4961A>C