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.S775insFs

c.2324_2325ins8

Surrounding Variants

1 paper

NM_001963.6

p.S775ins4

c.2324_2325ins12

1 paper

NM_001963.6

p.S775_D776ins2

c.2325_2326ins6

1 paper

NM_001963.6

p.D776Y

c.2326G>T

1 paper

NM_001963.6

p.A774_S775ins1

c.2322_2323insCAC

1 paper

NM_001963.6

p.A774T

c.2320G>A

1 paper

NM_001963.6

p.D776_G777ins3

c.2328_2329ins9

1 paper

NM_001963.6

p.D776_G777ins2

c.2328_2329ins6

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.K773ins2

c.2318_2319ins6