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.S181_E183del0

c.543_548del6

Surrounding Variants

1 paper

NM_004423.4

p.S175R

c.525C>A

1 paper

NM_004423.4

p.S175R

c.525C>G

1 paper

NM_004423.4

p.S175R

c.523A>C

1 paper

NM_004423.4

p.S175G

c.523A>G

1 paper

NM_004423.4

p.S188N

c.563G>A

1 paper

NM_004423.4

p.G172fs

c.514_515fs

1 paper

NM_004423.4

p.P170R

c.509C>G

1 paper

NM_004423.4

p.R168Q

c.503G>A

1 paper

NM_004423.4

p.R168*

c.502C>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.R212C

c.634C>T