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.T373I

c.1118C>T

Surrounding Variants

1 paper

NM_003836.7

p.I369V

c.1105A>G

1 paper

NM_003836.7

p.D380N

c.1138G>A

1 paper

NM_003836.7

p.I364N

c.1091T>A

1 paper

NM_003836.7

p.E357K

c.1069G>A

1 paper

NM_003836.7

p.Q352*

c.1054C>T

3 papers

NM_003836.7

p.R344Q

c.1031G>A

1 paper

NM_003836.7

p.Y339F

c.1016A>T

1 paper

NM_003836.7

p.F326L

c.978C>A

1 paper

NM_003836.7

p.F326L

c.978C>G

1 paper

NM_003836.7

p.F326L

c.976T>C

1 paper

NM_003836.7

p.S315G

c.943A>G

1 paper

NM_003836.7

p.V312M

c.934G>A