Varaico: Literature-Extracted Genetic Variants

DLK1

143 papers

RefSeq Summary

This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of...

Pfam Domains

EGFaa 92–123UCSCEGF-like domain

EGFaa 131–166UCSCEGF-like domain

EGFaa 174–204UCSCEGF-like domain

EGFaa 212–243UCSCEGF-like domain

Gene Aliases

HGNC Name

delta like non-canonical Notch ligand 1

HGNC Alias Symbols

FA1; pG2; Pref-1; ZOG; Delta1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003836.7

p.Q125delFs

c.373delC

Surrounding Variants

3 papers

NM_003836.7

p.C124*

c.372C>A

1 paper

NM_003836.7

p.Q125fs

c.373_374fs

1 paper

NM_003836.7

p.K122N

c.366G>C

1 paper

NM_003836.7

p.K122N

c.366G>T

1 paper

NM_003836.7

p.Y119*

c.357C>A

1 paper

NM_003836.7

p.Y119*

c.357C>G

1 paper

NM_003836.7

p.G118R

c.352G>A

1 paper

NM_003836.7

p.G118R

c.352G>C

1 paper

NM_003836.7

p.P117S

c.349C>T

3 papers

NM_003836.7

p.N134N

c.402C>T

1 paper

NM_003836.7

p.D107G

c.320A>G

3 papers

NM_003836.7

p.V104M

c.310G>A