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

9 papers

NM_203486.3

p.G504D

c.1511G>A

Surrounding Variants

1 paper

NM_203486.3

p.A503S

c.1507G>T

1 paper

NM_203486.3

p.A502T

c.1504G>A

1 paper

NM_203486.3

p.H514Y

c.1540C>T

1 paper

NM_203486.3

p.R516C

c.1546C>T

1 paper

NM_203486.3

p.R516L

c.1547G>T

1 paper

NM_203486.3

p.L492V

c.1474C>G

1 paper

NM_203486.3

p.P488A

c.1462C>G

2 papers

NM_203486.3

p.G482S

c.1444G>A

1 paper

NM_203486.3

p.R527P

c.1580G>C

2 papers

NM_203486.3

p.P481fs

c.1441_1442fs

5 papers

NM_203486.3

p.P480delFs

c.1440delG

1 paper

NM_203486.3

p.L529L

c.1585C>T