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.N2879S

c.8636A>G

Surrounding Variants

1 paper

NM_138694.4

p.N2879N

c.8637T>C

1 paper

NM_138694.4

p.G2878E

c.8633G>A

1 paper

NM_138694.4

p.S2877delFs

c.8629delA

2 papers

NM_138694.4

p.R2881Splc

c.8642+1G>T

6 papers

NM_138694.4

p.R2881Splc

c.8642+1G>A

1 paper

NM_138694.4

p.D2874H

c.8620G>C

1 paper

NM_138694.4

p.D2874N

c.8620G>A

1 paper

NM_138694.4

p.R2881Splc

c.8642+19T>G

20 papers

NM_138694.4

p.T2869K

c.8606C>A

1 paper

NM_138694.4

p.W2868_T2869delFs

c.8604_8605delTC

1 paper

NM_138694.4

p.K2865*

c.8593A>T

1 paper

NM_138694.4

p.P2864L

c.8591C>T