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.Y540delFs

c.1620delG

Surrounding Variants

1 paper

NM_001330311.2

p.Q541insFs

c.1623dupG

2 papers

NM_001330311.2

p.Q541delFs

c.1623delC

3 papers

NM_001330311.2

p.Q536_Q541delFs

c.1608_1623del16

1 paper

NM_001330311.2

p.P539delFs

c.1615delG

1 paper

NM_001330311.2

p.P539P

c.1617C>T

1 paper

NM_001330311.2

p.Y538_P539insFs

c.1612_1616dup5

1 paper

NM_001330311.2

p.Y538_P539delFs

c.1612_1615del4

1 paper

NM_004421.3

p.G519fs

c.1555_1556fs

1 paper

NM_004421.3

p.G519delFs

c.1556delC

2 papers

NM_001330311.2

p.Y540_G544delFs

c.1619_1631del13

1 paper

NM_004421.3

p.P521delFs

c.1562delG

2 papers

NM_004421.3

p.G510delFs

c.1529delC