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.Q285Q

c.855G>A

Surrounding Variants

2 papers

NM_004422.3

p.I282T

c.845T>C

1 paper

NM_004422.3

p.I282N

c.845T>A

1 paper

NM_004422.3

p.D291D

c.873C>T

1 paper

NM_004422.3

p.T269M

c.806C>T

1 paper

NM_004422.3

p.I265L

c.793A>C

1 paper

NM_004422.3

p.V334E

c.1001T>A

1 paper

NM_004422.3

p.R335W

c.1003C>T

1 paper

NM_004422.3

p.H342Y

c.1024C>T

1 paper

NM_004422.3

p.R246H

c.737G>A

1 paper

NM_004422.3

p.P245P

c.735C>T

2 papers

NM_004422.3

p.R237Q

c.710G>A

1 paper

NM_004422.3

p.R235H

c.704G>A