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.P51L

c.152C>T

Surrounding Variants

1 paper

NM_005618.4

p.P51fs

c.151_152fs

1 paper

NM_005618.4

p.G50_P51del2

c.148_152del6

1 paper

NM_005618.4

p.K35N

c.105G>C

1 paper

NM_005618.4

p.V33G

c.98T>G

1 paper

NM_005618.4

p.S70N

c.209G>A

1 paper

NM_005618.4

p.E26G

c.77A>G

1 paper

NM_005618.4

p.C77C

c.231C>T

2 papers

NM_005618.4

p.C77*

c.231C>A

1 paper

NM_005618.4

p.G80S

c.238G>A

1 paper

NM_005618.4

p.L87Q

c.260T>A

1 paper

NM_005618.4

p.G97R

c.289G>C

1 paper

NM_005618.4

p.I108I

c.324C>T