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.E141G

c.422A>G

Surrounding Variants

1 paper

NM_005618.4

p.R146H

c.437G>A

1 paper

NM_005618.4

p.A148P

c.442G>C

1 paper

NM_005618.4

p.L153M

c.457C>A

1 paper

NM_005618.4

p.T154M

c.461C>T

1 paper

NM_005618.4

p.E157K

c.469G>A

1 paper

NM_005618.4

p.W159R

c.475T>C

1 paper

NM_005618.4

p.W159R

c.475T>A

1 paper

NM_005618.4

p.D162D

c.486C>T

1 paper

NM_005618.4

p.T169T

c.507G>A

1 paper

NM_005618.4

p.D170N

c.508G>A

1 paper

NM_005618.4

p.R176H

c.527G>A

2 papers

NM_005618.4

p.C179F

c.536G>T