Varaico: Literature-Extracted Genetic Variants

DVL1

156 papers

RefSeq Summary

DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, in...

Pfam Domains

DIXaa 3–81UCSCDIX domain

Dishevelledaa 90–247UCSCDishevelled specific domain

PDZaa 251–336UCSCPDZ domain

DEPaa 428–497UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

Dsh_Caa 503–685UCSCSegment polarity protein dishevelled (Dsh) C terminal

Gene Aliases

HGNC Name

dishevelled segment polarity protein 1

HGNC Previous Names

dishevelled 1 (homologous to Drosophila dsh); dishevelled, dsh homolog 1 (Drosophila)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001330311.2

p.H260Q

c.780C>G

Surrounding Variants

1 paper

NM_001330311.2

p.H260Q

c.780C>A

1 paper

NM_001330311.2

p.F261C

c.782T>G

1 paper

NM_001330311.2

p.R258R

c.774A>G

1 paper

NM_001330311.2

p.E257*

c.769G>T

1 paper

NM_001330311.2

p.G281C

c.841G>T

3 papers

NM_001330311.2

p.K285Q

c.853A>C

3 papers

NM_001330311.2

p.K285R

c.854A>G

1 paper

NM_001330311.2

p.E257Splc

c.769+1G>A

1 paper

NM_001330311.2

p.E257*

c.769G>T

1 paper

NM_001330311.2

p.A288P

c.862G>C

1 paper

NM_001330311.2

p.A291T

c.871G>A

1 paper

NM_001330311.2

p.I249V

c.745A>G