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.L434insFs

c.1302dupC

Surrounding Variants

1 paper

NM_004423.4

p.L434delins

c.1301_1302delinsTT

1 paper

NM_004423.4

p.K435M

c.1304A>T

1 paper

NM_004423.4

p.P439P

c.1317T>C

1 paper

NM_004423.4

p.F442L

c.1324T>C

1 paper

NM_004423.4

p.F442L

c.1326C>A

1 paper

NM_004423.4

p.F442L

c.1326C>G

3 papers

NM_004423.4

p.G444S

c.1330G>A

1 paper

NM_004423.4

p.G444C

c.1330G>T

1 paper

NM_004423.4

p.E423G

c.1268A>G

1 paper

NM_004423.4

p.S421S

c.1263C>T

1 paper

NM_004423.4

p.M412del1

c.1234_1236delATG

1 paper

NM_004423.4

p.S407A

c.1219T>G