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

1–12 of 174 variants

9 papers

NM_203486.3

p.G504D

c.1511G>A

8 papers

NM_203486.3

p.R221*

c.661C>T

8 papers

NM_203486.3

p.G385D

c.1154G>A

7 papers

NM_203486.3

p.C200_G201insFs

c.599_603dup5

7 papers

NM_203486.3

p.L218P

c.653T>C

6 papers

NM_203486.3

p.S225N

c.674G>A

6 papers

NM_203486.3

p.R238*

c.712C>T

5 papers

NM_203486.3

p.F172C

c.515T>G

5 papers

NM_203486.3

p.P206delFs

c.618delC

5 papers

NM_203486.3

p.P480delFs

c.1440delG

4 papers

NM_203486.3

p.G132delFs

c.395delG

4 papers

NM_203486.3

p.L142Q

c.425T>A