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.T405M

c.1214C>T

Surrounding Variants

2 papers

NM_203486.3

p.G404C

c.1210G>T

1 paper

NM_203486.3

p.R414C

c.1240C>T

2 papers

NM_203486.3

p.C395ins2

c.1183_1184ins6

1 paper

NM_203486.3

p.A418insFs

c.1253_1254insA

1 paper

NM_203486.3

p.A418_L419insFs

c.1254_1255insA

1 paper

NM_203486.3

p.L419fs

c.1255_1256fs

1 paper

NM_203486.3

p.G420S

c.1258G>A

3 papers

NM_203486.3

p.C388*

c.1164C>A

1 paper

NM_203486.3

p.D425_E428ins1

c.1275_1283dup9

1 paper

NM_203486.3

p.R424L

c.1271G>T

1 paper

NM_203486.3

p.D425G

c.1274A>G

8 papers

NM_203486.3

p.G385D

c.1154G>A