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

3 papers

NM_001963.6

p.F861C

c.2582T>G

Surrounding Variants

15 papers

NM_001963.6

p.F861Y

c.2582T>A

1 paper

NM_001963.6

p.A862V

c.2585C>T

1 paper

NM_001963.6

p.G860E

c.2579G>A

2 papers

NM_001963.6

p.G863insFs

c.2587_2588insG

1 paper

NM_001963.6

p.G863V

c.2588G>T

1 paper

NM_001963.6

p.D864N

c.2590G>A

2 papers

NM_001963.6

p.L858F

c.2574G>T

1 paper

NM_001963.6

p.D864Y

c.2590G>T

2 papers

NM_001963.6

p.L858*

c.2573T>A

37 papers

NM_001963.6

p.L858W

c.2573T>G

1 paper

NM_001963.6

p.L858delins

c.2573_2574delinsGT

5 papers

NM_001963.6

p.L858M

c.2572T>A