Varaico: Literature-Extracted Genetic Variants

DVL2

108 papers

RefSeq Summary

This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD pro...

Pfam Domains

DIXaa 13–89UCSCDIX domain

Dishevelledaa 105–263UCSCDishevelled specific domain

PDZaa 267–352UCSCPDZ domain

DEPaa 436–505UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

Dsh_Caa 515–726UCSCSegment polarity protein dishevelled (Dsh) C terminal

Gene Aliases

HGNC Name

dishevelled segment polarity protein 2

HGNC Previous Names

dishevelled 2 (homologous to Drosophila dsh); dishevelled, dsh homolog 2 (Drosophila)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 113 variants

6 papers

NM_004422.3

p.T535I

c.1604C>T

4 papers

NM_004422.3

p.A53V

c.158C>T

4 papers

NM_004422.3

p.Q564*

c.1690C>T

3 papers

NM_004422.3

p.Q285Q

c.855G>A

3 papers

NM_004422.3

p.K446M

c.1337A>T

3 papers

NM_004422.3

p.E499G

c.1496A>G

3 papers

NM_004422.3

p.A601insFs

c.1801_1802insG

3 papers

NM_004422.3

p.Y667C

c.2000A>G

3 papers

NM_004422.3

p.P702insFs

c.2105dupC

2 papers

NM_004422.3

p.A111V

c.332C>T

2 papers

NM_004422.3

p.R237Q

c.710G>A

2 papers

NM_004422.3

p.I282T

c.845T>C