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.S694L

c.2081C>T

Surrounding Variants

1 paper

NM_005618.4

p.P692L

c.2075C>T

1 paper

NM_005618.4

p.D701N

c.2101G>A

1 paper

NM_005618.4

p.A686A

c.2058A>T

3 papers

NM_005618.4

p.S706L

c.2117C>T

1 paper

NM_005618.4

p.E712K

c.2134G>A

1 paper

NM_005618.4

p.K714R

c.2141A>G

1 paper

NM_005618.4

p.A720T

c.2158G>A

2 papers

NM_005618.4

p.L681I

c.2041C>A

1 paper

NM_005618.4

p.G676R

c.2026G>C

1 paper

NM_005618.4

p.G676R

c.2026G>A

1 paper

NM_005618.4

p.K675R

c.2024A>G

1 paper

NM_005618.4

p.E673fs

c.2017_2018fs