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.N642K

c.1926C>A

Surrounding Variants

1 paper

NM_005618.4

p.N642K

c.1926C>G

1 paper

NM_005618.4

p.V644M

c.1930G>A

1 paper

NM_005618.4

p.D640N

c.1918G>A

1 paper

NM_005618.4

p.A638V

c.1913C>T

1 paper

NM_005618.4

p.A638fs

c.1912_1913fs

1 paper

NM_005618.4

p.K648R

c.1943A>G

1 paper

NM_005618.4

p.R635delFs

c.1903delG

1 paper

NM_005618.4

p.R635C

c.1903C>T

1 paper

NM_005618.4

p.A634V

c.1901C>T

1 paper

NM_005618.4

p.G631D

c.1892G>A

1 paper

NM_005618.4

p.N630fs

c.1888_1889fs

1 paper

NM_005618.4

p.N630delFs

c.1889delT