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.G256C

c.766G>T

Surrounding Variants

2 papers

NM_001963.6

p.G256_S262delFs

c.767_786del20

1 paper

NM_001963.6

p.G256G

c.768T>A

1 paper

NM_001963.6

p.G256_D257insFs

c.768_769insAG

1 paper

NM_001963.6

p.D257insFs

c.770dupA

1 paper

NM_001963.6

p.F255I

c.763T>A

1 paper

NM_001963.6

p.F255V

c.763T>G

1 paper

NM_001963.6

p.R258insFs

c.772dupC

1 paper

NM_001963.6

p.D257A

c.770A>C

1 paper

NM_001963.6

p.L254P

c.761T>C

1 paper

NM_001963.6

p.L254F

c.760C>T

2 papers

NM_001963.6

p.S253S

c.759C>A

1 paper

NM_001963.6

p.R258H

c.773G>A