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

4 papers

NM_203486.3

p.G132delFs

c.395delG

Surrounding Variants

1 paper

NM_203486.3

p.L131F

c.393A>C

1 paper

NM_203486.3

p.L131F

c.393A>T

2 papers

NM_203486.3

p.G132fs

c.394_395fs

1 paper

NM_203486.3

p.E130E

c.390G>A

1 paper

NM_203486.3

p.W127L

c.380G>T

1 paper

NM_203486.3

p.I123fs

c.367_368fs

1 paper

NM_203486.3

p.F122_T126delFs

c.366_378del13

1 paper

NM_203486.3

p.S121C

c.362C>G

1 paper

NM_203486.3

p.G137Splc

c.409+19G>T

1 paper

NM_203486.3

p.P117_G118Splc

c.352-1G>T

1 paper

NM_203486.3

p.P117_G118Splc

c.352-22C>G

1 paper

NM_203486.3

p.A115T

c.343G>A