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

4 papers

NM_004423.4

p.A529delFs

c.1585delG

Surrounding Variants

1 paper

NM_004423.4

p.A529ins1

c.1585_1586insTAA

3 papers

NM_004423.4

p.A529fs

c.1585_1586fs

1 paper

NM_004423.4

p.H526_G528Fs

c.1576_1583delinsGFs

1 paper

NM_004423.4

p.P531delFs

c.1592delC

1 paper

NM_004423.4

p.L524Fs

c.1570_1571delinsCFs

1 paper

NM_004423.4

p.P531fs

c.1591_1592fs

1 paper

NM_004423.4

p.D519delFs

c.1556delA

1 paper

NM_004423.4

p.Q518*

c.1552C>T

1 paper

NM_004423.4

p.Y538insFs

c.1612_1613ins13

1 paper

NM_004423.4

p.Y538fs

c.1612_1613fs

1 paper

NM_004423.4

p.Q539fs

c.1615_1616fs

2 papers

NM_004423.4

p.Q539fs

c.1615_1616fs