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

1 paper

NM_203486.3

p.A17E

c.50C>A

Surrounding Variants

1 paper

NM_203486.3

p.P4S

c.10C>T

1 paper

NM_203486.3

p.P39L

c.116C>T

1 paper

NM_203486.3

p.G40D

c.119G>A

1 paper

NM_203486.3

p.A45S

c.133G>T

1 paper

NM_203486.3

p.S48P

c.142T>C

1 paper

NM_203486.3

p.C50*

c.150C>A

1 paper

NM_203486.3

p.S51S

c.153C>T

1 paper

NM_203486.3

p.R61fs

c.181_182fs

1 paper

NM_203486.3

p.V110delFs

c.329delT

1 paper

NM_203486.3

p.V110fs

c.328_329fs

1 paper

NM_203486.3

p.V110V

c.330G>C

1 paper

NM_203486.3

p.A115T

c.343G>A