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

3 papers

NM_004422.3

p.Y667C

c.2000A>G

Surrounding Variants

1 paper

NM_004422.3

p.P669A

c.2005C>G

1 paper

NM_004422.3

p.P670L

c.2009C>T

1 paper

NM_004422.3

p.L664V

c.1990C>G

1 paper

NM_004422.3

p.P679S

c.2035C>T

1 paper

NM_004422.3

p.M684delFs

c.2051delA

1 paper

NM_004422.3

p.G643_P646del4

c.1927_1937del12

1 paper

NM_004422.3

p.P646S

c.1936C>T

1 paper

NM_004422.3

p.G644D

c.1931G>A

1 paper

NM_004422.3

p.G635R

c.1903G>C

1 paper

NM_004422.3

p.G635R

c.1903G>A

1 paper

NM_004422.3

p.G634A

c.1901G>C

1 paper

NM_004422.3

p.A701delFs

c.2101delC