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

2 papers

NM_001330311.2

p.P531delFs

c.1592delG

NM_004421.3

p.P506delFs

c.1518delG

Surrounding Variants

3 papers

NM_004421.3

p.W507fs

c.1519_1520fs

1 paper

NM_004421.3

p.W507ins1

c.1519_1520insTAA

6 papers

NM_004421.3

p.W507delFs

c.1519delA

NM_001330311.2

p.W532delFs

c.1594delA

4 papers

NM_004421.3

p.H502_P506delFs

c.1505_1517del13

1 paper

NM_004421.3

p.W507fs

c.1519_1520fs

1 paper

NM_004421.3

p.P508fs

c.1522_1523fs

1 paper

NM_001330311.2

p.P531fs

c.1591_1592fs

1 paper

NM_004421.3

p.P508delFs

c.1522delG

1 paper

NM_004421.3

p.G510fs

c.1528_1529fs

2 papers

NM_004421.3

p.P503delFs

c.1508delG

3 papers

NM_004421.3

p.P499_P503delFs

c.1496_1508del13

NM_001330311.2

p.P524_P528delFs

c.1571_1583del13

2 papers

NM_004421.3

p.G510delFs

c.1529delC