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.C1336G

c.4006T>G

Surrounding Variants

1 paper

NM_138694.4

p.N1333_N1335delFs

c.3998_4004del7

2 papers

NM_138694.4

p.D1337N

c.4009G>A

1 paper

NM_138694.4

p.V1338I

c.4012G>A

1 paper

NM_138694.4

p.N1333T

c.3998A>C

1 paper

NM_138694.4

p.T1340R

c.4019C>G

1 paper

NM_138694.4

p.L1330delFs

c.3988delG

1 paper

NM_138694.4

p.L1330fs

c.3988_3989fs

2 papers

NM_138694.4

p.G1345G

c.4035C>A

1 paper

NM_138694.4

p.N1346D

c.4036A>G

2 papers

NM_138694.4

p.V1347M

c.4039G>A

1 paper

NM_138694.4

p.L1324L

c.3972C>T

1 paper

NM_138694.4

p.L1324F

c.3970C>T