Varaico: Literature-Extracted Genetic Variants

DLL3

142 papers

RefSeq Summary

This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this...

Pfam Domains

MNNLaa 27–176UCSCN terminus of Notch ligand C2-like domain

EGFaa 278–308UCSCEGF-like domain

EGFaa 316–349UCSCEGF-like domain

EGFaa 357–387UCSCEGF-like domain

EGFaa 395–425UCSCEGF-like domain

hEGFaa 438–459UCSCHuman growth factor-like EGF

Gene Aliases

HGNC Name

delta like canonical Notch ligand 3

HGNC Alias Symbol

SCDO1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_203486.3

p.G269R

c.805G>A

Surrounding Variants

3 papers

NM_203486.3

p.G269R

c.805G>C

1 paper

NM_203486.3

p.G269A

c.806G>C

1 paper

NM_203486.3

p.C270*

c.810C>A

1 paper

NM_203486.3

p.P263L

c.788C>T

1 paper

NM_203486.3

p.G280R

c.838G>A

1 paper

NM_203486.3

p.G280R

c.838G>C

1 paper

NM_203486.3

p.P251S

c.751C>T

1 paper

NM_203486.3

p.C289Y

c.866G>A

1 paper

NM_203486.3

p.S290_E291Splc

c.870+2T>C

1 paper

NM_203486.3

p.G242V

c.725G>T

6 papers

NM_203486.3

p.R238*

c.712C>T

1 paper

NM_203486.3

p.H228_T244del0

c.683_730del48