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.H88R

c.263A>G

Surrounding Variants

1 paper

NM_001330311.2

p.H88P

c.263A>C

1 paper

NM_001330311.2

p.S89L

c.266C>T

2 papers

NM_001330311.2

p.A91V

c.272C>T

1 paper

NM_001330311.2

p.T96S

c.286A>T

1 paper

NM_001330311.2

p.T96T

c.288G>A

1 paper

NM_001330311.2

p.D101A

c.302A>C

1 paper

NM_001330311.2

p.R108Q

c.323G>A

1 paper

NM_001330311.2

p.G111C

c.331G>T

1 paper

NM_001330311.2

p.G113E

c.338G>A

1 paper

NM_001330311.2

p.S115P

c.343T>C

1 paper

NM_001330311.2

p.G111_S115del0

c.332_343del12

1 paper

NM_001330311.2

p.V77M

c.229G>A