Varaico: Literature-Extracted Genetic Variants

MPDZ

219 papers

RefSeq Summary

The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clu...

Pfam Domains

L27_2aa 6–63UCSCL27_2

PDZaa 138–221UCSCPDZ domain

PDZaa 257–334UCSCPDZ domain

PDZaa 377–460UCSCPDZ domain

PDZaa 555–630UCSCPDZ domain

PDZaa 700–784UCSCPDZ domain

Gene Aliases

HGNC Name

multiple PDZ domain crumbs cell polarity complex component

HGNC Alias Symbol

MUPP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001378778.1

p.V137F

c.409G>T

Surrounding Variants

1 paper

NM_001378778.1

p.V137I

c.409G>A

6 papers

NM_001378778.1

p.G132S

c.394G>A

1 paper

NM_001378778.1

p.S145fs

c.433_434fs

1 paper

NM_001378778.1

p.R160I

c.479G>T

1 paper

NM_001378778.1

p.F166_E169del0

c.498_506del9

3 papers

NM_001378778.1

p.Q171E

c.511C>G

1 paper

NM_001378778.1

p.V175M

c.523G>A

3 papers

NM_001378778.1

p.R178Splc

c.533+1G>T

1 paper

NM_001378778.1

p.A130T

c.388G>A

1 paper

NM_001378778.1

p.Q124*

c.370C>T

1 paper

NM_001378778.1

p.D123G

c.368A>G

1 paper

NM_001378778.1

p.C119S

c.356G>C