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

1–12 of 243 variants

6 papers

NM_001330311.2

p.P122P

c.366A>G

5 papers

NM_004421.3

p.W507delFs

c.1519delA

4 papers

NM_001330311.2

p.L507delFs

c.1519delG

4 papers

NM_004421.3

p.H502_P506delFs

c.1505_1517del13

3 papers

NM_001330311.2

p.K69Q

c.205A>C

3 papers

NM_001330311.2

p.K69R

c.206A>G

3 papers

NM_001330311.2

p.A157T

c.469G>A

3 papers

NM_001330311.2

p.A178V

c.533C>T

3 papers

NM_001330311.2

p.R229G

c.685C>G

3 papers

NM_001330311.2

p.K285Q

c.853A>C

3 papers

NM_001330311.2

p.K285R

c.854A>G

3 papers

NM_001330311.2

p.P526fs

c.1576_1577fs