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

2 papers

NM_005618.4

p.G185R

c.553G>C

Surrounding Variants

2 papers

NM_005618.4

p.G185*

c.553G>T

1 paper

NM_005618.4

p.G185R

c.553G>A

1 paper

NM_005618.4

p.G187C

c.559G>T

2 papers

NM_005618.4

p.C179F

c.536G>T

1 paper

NM_005618.4

p.E181_V190insFs

c.543_570dup28

1 paper

NM_005618.4

p.F191fs

c.571_572fs

1 paper

NM_005618.4

p.F191fs

c.571_572fs

1 paper

NM_005618.4

p.R193H

c.578G>A

1 paper

NM_005618.4

p.R176H

c.527G>A

1 paper

NM_005618.4

p.R195delFs

c.583delG

1 paper

NM_005618.4

p.R195fs

c.583_584fs

1 paper

NM_005618.4

p.G200S

c.598G>A