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.R499_L500insFs

c.1497_1498insG

Surrounding Variants

1 paper

NM_138694.4

p.P501S

c.1501C>T

1 paper

NM_138694.4

p.P501L

c.1502C>T

1 paper

NM_138694.4

p.L500_P501del2

c.1498_1502del6

1 paper

NM_138694.4

p.A497P

c.1489G>C

3 papers

NM_138694.4

p.R496P

c.1487G>C

26 papers

NM_138694.4

p.R496*

c.1486C>T

1 paper

NM_138694.4

p.Q504H

c.1512G>T

1 paper

NM_138694.4

p.Q504H

c.1512G>C

2 papers

NM_138694.4

p.Q504_V505Splc

c.1512+1G>A

1 paper

NM_138694.4

p.R494L

c.1481G>T

1 paper

NM_138694.4

p.R494Q

c.1481G>A

1 paper

NM_138694.4

p.I493delFs

c.1479delG