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.L8V

c.22C>G

Surrounding Variants

1 paper

NM_001963.6

p.L8L

c.22C>T

2 papers

NM_001963.6

p.I7I

c.21T>A

1 paper

NM_001963.6

p.L8Q

c.23T>A

1 paper

NM_001963.6

p.L8delFs

c.22delC

1 paper

NM_001963.6

p.L8L

c.24G>T

1 paper

NM_001963.6

p.I7N

c.20T>A

2 papers

NM_001963.6

p.I7V

c.19A>G

1 paper

NM_001963.6

p.L9ins1

c.26_27insGGT

1 paper

NM_001963.6

p.I6I

c.18C>A

1 paper

NM_001963.6

p.I6I

c.18C>T

2 papers

NM_001963.6

p.L9*

c.26T>A

1 paper

NM_001963.6

p.L9L

c.27G>A