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.E499G

c.1496A>G

Surrounding Variants

1 paper

NM_004422.3

p.R489*

c.1465C>T

1 paper

NM_004422.3

p.R476C

c.1426C>T

1 paper

NM_004422.3

p.G468A

c.1403G>C

1 paper

NM_004422.3

p.V466A

c.1397T>C

1 paper

NM_004422.3

p.Y463C

c.1388A>G

3 papers

NM_004422.3

p.K446M

c.1337A>T

1 paper

NM_004422.3

p.R442C

c.1324C>T

1 paper

NM_004422.3

p.E438D

c.1314A>T

1 paper

NM_004422.3

p.E438D

c.1314A>C

1 paper

NM_004422.3

p.E438A

c.1313A>C

1 paper

NM_004422.3

p.E438Q

c.1312G>C

1 paper

NM_004422.3

p.S435A

c.1303T>G