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.P437fs

c.1309_1310fs

Surrounding Variants

3 papers

NM_203486.3

p.A434insFs

c.1301dupC

1 paper

NM_203486.3

p.A430P

c.1288G>C

3 papers

NM_203486.3

p.C444Y

c.1331G>A

1 paper

NM_203486.3

p.C444W

c.1332C>G

1 paper

NM_203486.3

p.E428_R436delFs

c.1284_1306del23

1 paper

NM_203486.3

p.E428fs

c.1282_1283fs

1 paper

NM_203486.3

p.D425G

c.1274A>G

1 paper

NM_203486.3

p.R424L

c.1271G>T

1 paper

NM_203486.3

p.D425_E428ins1

c.1275_1283dup9

1 paper

NM_203486.3

p.V452V

c.1356C>T

1 paper

NM_203486.3

p.G420S

c.1258G>A

1 paper

NM_203486.3

p.L419fs

c.1255_1256fs