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.L97L

c.291T>A

Surrounding Variants

1 paper

NM_001963.6

p.L97H

c.290T>A

1 paper

NM_001963.6

p.L98M

c.292T>A

1 paper

NM_001963.6

p.L98L

c.292T>C

1 paper

NM_001963.6

p.L97I

c.289C>A

1 paper

NM_001963.6

p.L98insFs

c.293_294insC

1 paper

NM_001963.6

p.Q96insFs

c.287_288insC

1 paper

NM_001963.6

p.Q99K

c.295C>A

1 paper

NM_001963.6

p.Q99_R100insT

c.295_299ins3

1 paper

NM_001963.6

p.Q99*

c.295C>T

1 paper

NM_001963.6

p.Q96K

c.286C>A

1 paper

NM_001963.6

p.Q96*

c.286C>T

1 paper

NM_001963.6

p.R100*

c.298A>T