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.K69R

c.206A>G

Surrounding Variants

3 papers

NM_001330311.2

p.K69Q

c.205A>C

1 paper

NM_001330311.2

p.A68T

c.202G>A

1 paper

NM_001330311.2

p.P71L

c.212C>T

1 paper

NM_001330311.2

p.P71P

c.213C>T

1 paper

NM_001330311.2

p.D66Y

c.196G>T

1 paper

NM_001330311.2

p.N74S

c.221A>G

1 paper

NM_001330311.2

p.R76S

c.226C>A

1 paper

NM_001330311.2

p.R76H

c.227G>A

1 paper

NM_001330311.2

p.V77M

c.229G>A

1 paper

NM_001330311.2

p.K60N

c.180G>T

1 paper

NM_001330311.2

p.K60N

c.180G>C

1 paper

NM_001330311.2

p.H88R

c.263A>G