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

1 paper

NM_001963.6

p.K773ins2

c.2318_2319ins6

Surrounding Variants

2 papers

NM_001963.6

p.K773_A774ins3

c.2319_2320ins9

2 papers

NM_001963.6

p.K773_A774ins1

c.2319_2320insCAC

1 paper

NM_001963.6

p.K773_A774ins3

c.2319_2320ins9

1 paper

NM_001963.6

p.K773_A774ins2

c.2319_2320ins6

1 paper

NM_001963.6

p.A774T

c.2320G>A

1 paper

NM_001963.6

p.K773_A774ins0

c.2317_2322dup6

1 paper

NM_001963.6

p.A774_S775ins1

c.2322_2323insCAC

1 paper

NM_001963.6

p.M772_K773insV

c.2314_2318ins3

1 paper

NM_001963.6

p.M772_K773ins2

c.2316_2317ins6

1 paper

NM_001963.6

p.M772_K773ins3

c.2316_2317ins9

1 paper

NM_001963.6

p.M772_K773ins3

c.2316_2317ins9

1 paper

NM_001963.6

p.M772_K773ins0

c.2314_2319dup6