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.G770_F771ins1

c.2310_2311insGGT

Surrounding Variants

1 paper

NM_001963.6

p.E769_G770ins3

c.2307_2308ins9

1 paper

NM_001963.6

p.G770ins3

c.2308_2309ins9

1 paper

NM_001963.6

p.G770ins3

c.2308_2309ins9

1 paper

NM_001963.6

p.G770ins1

c.2308_2309insTGG

1 paper

NM_001963.6

p.G770S

c.2308G>A

1 paper

NM_001963.6

p.G770ins1

c.2308_2309insGTT

1 paper

NM_001963.6

p.G770_F771ins7

c.2308_2312ins21

1 paper

NM_001963.6

p.G770_F771ins2

c.2310_2311ins6

1 paper

NM_001963.6

p.E769*

c.2305G>T

1 paper

NM_001963.6

p.F771ins1

c.2311_2312insGGT

1 paper

NM_001963.6

p.F771_K773ins1

c.2311_2319dup9

1 paper

NM_001963.6

p.R768H

c.2303G>A