Varaico: Literature-Extracted Genetic Variants

DVL3

139 papers

RefSeq Summary

This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulat...

Pfam Domains

DIXaa 3–78UCSCDIX domain

Dishevelledaa 87–245UCSCDishevelled specific domain

PDZaa 249–334UCSCPDZ domain

DEPaa 425–494UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

Dsh_Caa 500–706UCSCSegment polarity protein dishevelled (Dsh) C terminal

Gene Aliases

HGNC Name

dishevelled segment polarity protein 3

HGNC Alias Symbol

KIAA0208

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004423.4

p.R148Q

c.443G>A

Surrounding Variants

1 paper

NM_004423.4

p.R148R

c.444G>A

1 paper

NM_004423.4

p.P152fs

c.454_455fs

1 paper

NM_004423.4

p.S137Y

c.410C>A

1 paper

NM_004423.4

p.T135R

c.404C>G

1 paper

NM_004423.4

p.T133I

c.398C>T

1 paper

NM_004423.4

p.G123R

c.367G>A

1 paper

NM_004423.4

p.P119S

c.355C>T

1 paper

NM_004423.4

p.H118Splc

c.353+7G>A

1 paper

NM_004423.4

p.R113Q

c.338G>A

1 paper

NM_004423.4

p.E104G

c.311A>G

2 papers

NM_004423.4

p.P102P

c.306T>A

1 paper

NM_004423.4

p.R168*

c.502C>T