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

2 papers

NM_001963.6

p.S19N

c.56G>A

Surrounding Variants

1 paper

NM_001963.6

p.S19I

c.56G>T

1 paper

NM_001963.6

p.S19C

c.55A>T

1 paper

NM_001963.6

p.L20del1

c.58_59delCTC

1 paper

NM_001963.6

p.V18V

c.54T>C

1 paper

NM_001963.6

p.L20H

c.59T>A

2 papers

NM_001963.6

p.V18A

c.53T>C

1 paper

NM_001963.6

p.L20P

c.59T>C

1 paper

NM_001963.6

p.L20L

c.60C>G

1 paper

NM_001963.6

p.F17insFs

c.50_51insA

1 paper

NM_001963.6

p.F17I

c.49T>A

2 papers

NM_001963.6

p.A22T

c.64G>A

2 papers

NM_001963.6

p.A22delFs

c.65delC