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.L301_A302insFs

c.903_904insG

Surrounding Variants

1 paper

NM_001963.6

p.L301L

c.903T>G

1 paper

NM_001963.6

p.A302T

c.904G>A

1 paper

NM_001963.6

p.L301fs

c.901_902fs

1 paper

NM_001963.6

p.L301delFs

c.902delT

1 paper

NM_001963.6

p.L301delFs

c.901delC

1 paper

NM_001963.6

p.Q303*

c.907C>T

1 paper

NM_001963.6

p.Q303R

c.908A>G

2 papers

NM_001963.6

p.P304S

c.910C>T

1 paper

NM_001963.6

p.H299N

c.895C>A

1 paper

NM_001963.6

p.P304L

c.911C>T

1 paper

NM_001963.6

p.P304P

c.912C>G

2 papers

NM_001963.6

p.V298V

c.894G>T