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

1 paper

NM_004422.3

p.G83E

c.248G>A

Surrounding Variants

1 paper

NM_004422.3

p.P79S

c.235C>T

1 paper

NM_004422.3

p.W88_L89Splc

c.264+136G>A

1 paper

NM_004422.3

p.S91Y

c.272C>A

1 paper

NM_004422.3

p.R107W

c.319C>T

2 papers

NM_004422.3

p.A111V

c.332C>T

1 paper

NM_004422.3

p.L120fs

c.358_359fs

1 paper

NM_004422.3

p.S135S

c.405C>T

1 paper

NM_004422.3

p.E152Q

c.454G>C

1 paper

NM_004422.3

p.R161W

c.481C>T

1 paper

NM_004422.3

p.R161Q

c.482G>A

1 paper

NM_004422.3

p.R165R

c.495C>A

1 paper

NM_004422.3

p.S169N

c.506G>A