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.R149*

c.445C>T

Surrounding Variants

2 papers

NM_001330311.2

p.R151W

c.451C>T

1 paper

NM_001330311.2

p.R153C

c.457C>T

1 paper

NM_001330311.2

p.R144W

c.430C>T

1 paper

NM_001330311.2

p.M140V

c.418A>G

1 paper

NM_001330311.2

p.E138K

c.412G>A

1 paper

NM_001330311.2

p.T137M

c.410C>T

1 paper

NM_001330311.2

p.T137delFs

c.409delT

1 paper

NM_001330311.2

p.G136G

c.408C>T

1 paper

NM_001330311.2

p.N133K

c.399C>G

1 paper

NM_001330311.2

p.N133K

c.399C>A

1 paper

NM_001330311.2

p.A125D

c.374C>A

6 papers

NM_001330311.2

p.P122P

c.366A>G