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.Q430*

c.1288C>T

Surrounding Variants

1 paper

NM_138694.4

p.Q430insFs

c.1288_1289insTA

1 paper

NM_138694.4

p.Q430K

c.1288C>A

1 paper

NM_138694.4

p.W428fs

c.1282_1283fs

1 paper

NM_138694.4

p.W428*

c.1284G>A

1 paper

NM_138694.4

p.W428*

c.1283G>A

1 paper

NM_138694.4

p.W428delFs

c.1282delA

1 paper

NM_138694.4

p.D433A

c.1298A>C

2 papers

NM_138694.4

p.E434D

c.1302A>T

2 papers

NM_138694.4

p.E434D

c.1302A>C

1 paper

NM_138694.4

p.W437*

c.1310G>A

1 paper

NM_138694.4

p.W437*

c.1311G>A

1 paper

NM_138694.4

p.Q438K

c.1312C>A