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.A182fs

c.544_545fs

Surrounding Variants

1 paper

NM_203486.3

p.A182del1

c.544_546delGCC

3 papers

NM_203486.3

p.A182A

c.546C>G

1 paper

NM_203486.3

p.V183_G184del2

c.547_551del6

3 papers

NM_203486.3

p.E179*

c.535G>T

1 paper

NM_203486.3

p.R175G

c.523C>G

2 papers

NM_203486.3

p.R189R

c.567C>G

5 papers

NM_203486.3

p.F172C

c.515T>G

1 paper

NM_203486.3

p.R194S

c.580C>A

1 paper

NM_203486.3

p.S195fs

c.583_584fs

1 paper

NM_203486.3

p.S195_L204delFs

c.584_611del28

2 papers

NM_203486.3

p.W168insFs

c.503dupG

1 paper

NM_203486.3

p.G166A

c.497G>C