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.G461A

c.1382G>C

Surrounding Variants

1 paper

NM_203486.3

p.A462E

c.1385C>A

1 paper

NM_203486.3

p.M460K

c.1379T>A

1 paper

NM_203486.3

p.M460L

c.1378A>C

1 paper

NM_203486.3

p.M460V

c.1378A>G

1 paper

NM_203486.3

p.M460L

c.1378A>T

1 paper

NM_203486.3

p.R463L

c.1388G>T

1 paper

NM_203486.3

p.P457S

c.1369C>T

1 paper

NM_203486.3

p.C455W

c.1365C>G

2 papers

NM_203486.3

p.C455fs

c.1363_1364fs

1 paper

NM_203486.3

p.C455_G461delFs

c.1365_1381del17

1 paper

NM_203486.3

p.V452V

c.1356C>T

1 paper

NM_203486.3

p.D471N

c.1411G>A