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.F558L

c.1672T>C

Surrounding Variants

3 papers

NM_004421.3

p.S537fs

c.1609_1610fs

1 paper

NM_004421.3

p.P526_Y528Fs

c.1576_1583delinsGFs

1 paper

NM_001330311.2

p.Y553N

c.1657T>A

2 papers

NM_001330311.2

p.G563D

c.1688G>A

1 paper

NM_001330311.2

p.A552P

c.1654G>C

3 papers

NM_004421.3

p.S539fs

c.1615_1616fs

2 papers

NM_004421.3

p.S539delFs

c.1615delT

1 paper

NM_001330311.2

p.S564S

c.1692C>T

3 papers

NM_004421.3

p.G538_S539insFs

c.1612_1616dup5

1 paper

NM_001330311.2

p.T565delFs

c.1695delG

1 paper

NM_004421.3

p.F524Fs

c.1570_1571delinsCFs

1 paper

NM_004421.3

p.S542fs

c.1624_1625fs