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

1–12 of 162 variants

4 papers

NM_004423.4

p.N253S

c.758A>G

4 papers

NM_004423.4

p.A529delFs

c.1585delG

3 papers

NM_004423.4

p.R216T

c.647G>C

3 papers

NM_004423.4

p.G444S

c.1330G>A

3 papers

NM_004423.4

p.A529fs

c.1585_1586fs

3 papers

NM_004423.4

p.Q539delFs

c.1617delG

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.G572Splc

c.1715-1G>A

3 papers

NM_004423.4

p.S573fs

c.1717_1718fs

3 papers

NM_004423.4

p.S583fs

c.1747_1748fs

3 papers

NM_004423.4

p.S583delFs

c.1749delC