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.S201S

c.603C>T

Surrounding Variants

1 paper

NM_001330311.2

p.S190R

c.570C>G

1 paper

NM_001330311.2

p.S190R

c.570C>A

1 paper

NM_001330311.2

p.S190R

c.568A>C

1 paper

NM_001330311.2

p.A178A

c.534G>A

3 papers

NM_001330311.2

p.A178V

c.533C>T

1 paper

NM_001330311.2

p.S177S

c.531C>T

1 paper

NM_001330311.2

p.G172E

c.515G>A

1 paper

NM_001330311.2

p.V171insFs

c.512_513insGC

1 paper

NM_001330311.2

p.R168Q

c.503G>A

2 papers

NM_001330311.2

p.R164G

c.490A>G

2 papers

NM_001330311.2

p.R158Q

c.473G>A

3 papers

NM_001330311.2

p.A157T

c.469G>A