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.N253S

c.758A>G

Surrounding Variants

1 paper

NM_004423.4

p.T249T

c.747G>A

2 papers

NM_004423.4

p.T249M

c.746C>T

1 paper

NM_004423.4

p.S233S

c.699G>A

1 paper

NM_004423.4

p.K223Q

c.667A>C

1 paper

NM_004423.4

p.R222Q

c.665G>A

3 papers

NM_004423.4

p.R216T

c.647G>C

1 paper

NM_004423.4

p.R212C

c.634C>T

1 paper

NM_004423.4

p.Q207H

c.621G>C

1 paper

NM_004423.4

p.Q207H

c.621G>T

1 paper

NM_004423.4

p.S188N

c.563G>A

1 paper

NM_004423.4

p.S181_E183del0

c.543_548del6

1 paper

NM_004423.4

p.S175R

c.525C>A