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

3 papers

NM_001330311.2

p.R229G

c.685C>G

Surrounding Variants

1 paper

NM_001330311.2

p.R229P

c.686G>C

1 paper

NM_001330311.2

p.R224K

c.671G>A

1 paper

NM_001330311.2

p.S213F

c.638C>T

1 paper

NM_001330311.2

p.Q209*

c.625C>T

1 paper

NM_001330311.2

p.L203F

c.607C>T

1 paper

NM_001330311.2

p.R233_A234Splc

c.700-5C>T

1 paper

NM_001330311.2

p.A234V

c.701C>T

1 paper

NM_001330311.2

p.S235A

c.703T>G

1 paper

NM_001330311.2

p.T244I

c.731C>T

2 papers

NM_001330311.2

p.S246F

c.737C>T

1 paper

NM_001330311.2

p.N248D

c.742A>G

1 paper

NM_001330311.2

p.N248K

c.744C>G