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

4 papers

NM_138694.4

p.R488P

c.1463G>C

Surrounding Variants

1 paper

NM_138694.4

p.R488W

c.1462C>T

1 paper

NM_138694.4

p.E489K

c.1465G>A

1 paper

NM_138694.4

p.Y486*

c.1458C>G

1 paper

NM_138694.4

p.Y486*

c.1458C>A

3 papers

NM_138694.4

p.Y486H

c.1456T>C

1 paper

NM_138694.4

p.T485I

c.1454C>T

1 paper

NM_138694.4

p.H491P

c.1472A>C

1 paper

NM_138694.4

p.H491Q

c.1473C>G

1 paper

NM_138694.4

p.H491Q

c.1473C>A

1 paper

NM_138694.4

p.V483A

c.1448T>C

1 paper

NM_138694.4

p.V482delins

c.1444_1446delinsCAA

13 papers

NM_138694.4

p.R494*

c.1480C>T