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.P526fs

c.1576_1577fs

Surrounding Variants

1 paper

NM_001330311.2

p.P526A

c.1576C>G

3 papers

NM_004421.3

p.H502fs

c.1504_1505fs

2 papers

NM_001330311.2

p.P524delFs

c.1571delG

1 paper

NM_001330311.2

p.P524delFs

c.1570_1571delGG

1 paper

NM_004421.3

p.P503fs

c.1507_1508fs

1 paper

NM_004421.3

p.P499fs

c.1495_1496fs

1 paper

NM_004421.3

p.P503L

c.1508C>T

1 paper

NM_001330311.2

p.L525_P528insFs

c.1575_1582dup8

2 papers

NM_001330311.2

p.P526_P528Fs

c.1576_1583delinsGFs

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_001330311.2

p.T521delFs

c.1562delG