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

Selected Variant

6 papers

NM_004422.3

p.T535I

c.1604C>T

Surrounding Variants

1 paper

NM_004422.3

p.G541insFs

c.1623dupG

1 paper

NM_004422.3

p.G541delFs

c.1623delC

1 paper

NM_004422.3

p.Q554H

c.1662A>T

2 papers

NM_004422.3

p.Q554Q

c.1662A>G

1 paper

NM_004422.3

p.Q554H

c.1662A>C

1 paper

NM_004422.3

p.Q554_Y555insFs

c.1662_1663insG

1 paper

NM_004422.3

p.Y555fs

c.1663_1664fs

1 paper

NM_004422.3

p.P556R

c.1667C>G

1 paper

NM_004422.3

p.P563S

c.1687C>T

4 papers

NM_004422.3

p.Q564*

c.1690C>T

1 paper

NM_004422.3

p.Q564H

c.1692G>C

1 paper

NM_004422.3

p.S572insFs

c.1716dupA