Varaico: Literature-Extracted Genetic Variants

EGF

4,493 papers

RefSeq Summary

This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protei...

Pfam Domains

EGF_CAaa 314–353UCSCCalcium-binding EGF domain

EGF_CAaa 356–395UCSCCalcium-binding EGF domain

Ldl_recept_baa 524–564UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_baa 567–607UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_baa 610–651UCSCLow-density lipoprotein receptor repeat class B

Gene Aliases

HGNC Name

epidermal growth factor

HGNC Previous Name

epidermal growth factor (beta-urogastrone)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001963.6

p.K296E

c.886A>G

Surrounding Variants

3 papers

NM_001963.6

p.K296R

c.887A>G

2 papers

NM_001963.6

p.L295P

c.884T>C

3 papers

NM_001963.6

p.V297I

c.889G>A

1 paper

NM_001963.6

p.E294_L295insFs

c.882_883insCT

1 paper

NM_001963.6

p.V297G

c.890T>G

1 paper

NM_001963.6

p.E294G

c.881A>G

2 papers

NM_001963.6

p.V298M

c.892G>A

1 paper

NM_001963.6

p.E294K

c.880G>A

1 paper

NM_001963.6

p.E294Q

c.880G>C

1 paper

NM_001963.6

p.V298insFs

c.893_894insG

1 paper

NM_001963.6

p.G293_E294Fs

c.879_880delinsAFs

2 papers

NM_001963.6

p.V298V

c.894G>T