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.S195fs

c.583_584fs

Surrounding Variants

1 paper

NM_203486.3

p.S195_L204delFs

c.584_611del28

1 paper

NM_203486.3

p.R194S

c.580C>A

7 papers

NM_203486.3

p.C200_G201insFs

c.599_603dup5

2 papers

NM_203486.3

p.R205insFs

c.614_615ins13

2 papers

NM_203486.3

p.R189R

c.567C>G

4 papers

NM_203486.3

p.G201delFs

c.602delG

2 papers

NM_203486.3

p.G201fs

c.601_602fs

2 papers

NM_203486.3

p.P202fs

c.604_605fs

1 paper

NM_203486.3

p.R205insFs

c.614_615ins13

5 papers

NM_203486.3

p.P206delFs

c.618delC

1 paper

NM_203486.3

p.P206insFs

c.616_617ins5

1 paper

NM_203486.3

p.P206A

c.616C>G