Varaico: Literature-Extracted Genetic Variants

DLL1

148 papers

RefSeq Summary

DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell...

Pfam Domains

MNNLaa 22–177UCSCN terminus of Notch ligand C2-like domain

DSLaa 179–224UCSCDelta serrate ligand

EGF_DL_JAGaa 264–289UCSCDelta-like/Jagged, EGF-like domain

EGFaa 285–324UCSCEGF-like domain

EGFaa 332–361UCSCEGF-like domain

EGFaa 370–399UCSCEGF-like domain

Gene Aliases

HGNC Name

delta like canonical Notch ligand 1

HGNC Previous Names

delta (Drosophila)-like 1; delta-like 1 (Drosophila)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005618.4

p.R252Q

c.755G>A

Surrounding Variants

1 paper

NM_005618.4

p.C254R

c.760T>C

1 paper

NM_005618.4

p.D255A

c.764A>C

1 paper

NM_005618.4

p.D255fs

c.763_764fs

1 paper

NM_005618.4

p.E256K

c.766G>A

1 paper

NM_005618.4

p.D255delFs

c.765delG

1 paper

NM_005618.4

p.G262D

c.785G>A

1 paper

NM_005618.4

p.L264fs

c.790_791fs

1 paper

NM_005618.4

p.C274Y

c.821G>A

2 papers

NM_005618.4

p.G282S

c.844G>A

1 paper

NM_005618.4

p.G282fs

c.844_845fs

1 paper

NM_005618.4

p.G282insFs

c.845dupG

1 paper

NM_005618.4

p.G282fs

c.844_845fs