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.Y538fs

c.1612_1613fs

Surrounding Variants

1 paper

NM_004423.4

p.Y538insFs

c.1612_1613ins13

1 paper

NM_004423.4

p.Q539fs

c.1615_1616fs

2 papers

NM_004423.4

p.Q539fs

c.1615_1616fs

1 paper

NM_004423.4

p.Y540Fs

c.1618delinsGTFs

3 papers

NM_004423.4

p.Q539delFs

c.1617delG

1 paper

NM_004423.4

p.Y540insFs

c.1618dupT

1 paper

NM_004423.4

p.Y540fs

c.1618_1619fs

1 paper

NM_004423.4

p.Y540fs

c.1618_1619fs

2 papers

NM_004423.4

p.P541L

c.1622C>T

1 paper

NM_004423.4

p.P543_N548del6

c.1627_1643del18

1 paper

NM_004423.4

p.P543_N548del0

c.1629_1643del15

1 paper

NM_004423.4

p.P531fs

c.1591_1592fs