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.G572insFs

c.1716dupC

Surrounding Variants

2 papers

NM_004423.4

p.G572delFs

c.1716delC

1 paper

NM_004423.4

p.G572fs

c.1714_1715fs

3 papers

NM_004423.4

p.G572Splc

c.1715-1G>A

3 papers

NM_004423.4

p.G572Splc

c.1715-2A>C

3 papers

NM_004423.4

p.G572Splc

c.1715-2A>G

3 papers

NM_004423.4

p.S573fs

c.1717_1718fs

2 papers

NM_004423.4

p.G582delFs

c.1745delG

2 papers

NM_004423.4

p.G582fs

c.1744_1745fs

3 papers

NM_004423.4

p.S583fs

c.1747_1748fs

3 papers

NM_004423.4

p.S583delFs

c.1749delC

1 paper

NM_004423.4

p.D584_R585delFs

c.1751_1754del4

1 paper

NM_004423.4

p.S583_D584ins1

c.1749_1750insTAA