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.Q1665E

c.4993C>G

Surrounding Variants

2 papers

NM_138694.4

p.Q1665*

c.4993C>T

8 papers

NM_138694.4

p.S1664F

c.4991C>T

1 paper

NM_138694.4

p.S1662F

c.4985C>T

1 paper

NM_138694.4

p.I1661N

c.4982T>A

1 paper

NM_138694.4

p.L1660F

c.4980G>T

1 paper

NM_138694.4

p.L1660F

c.4980G>C

1 paper

NM_138694.4

p.I1669_L1670del2

c.5005_5009del6

1 paper

NM_138694.4

p.F1672delFs

c.5014_5015delAA

1 paper

NM_138694.4

p.K1654T

c.4961A>C

1 paper

NM_138694.4

p.Q1676*

c.5026C>T

3 papers

NM_138694.4

p.Y1652C

c.4955A>G

1 paper

NM_138694.4

p.G1651S

c.4951G>A