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.I565V

c.1693A>G

Surrounding Variants

1 paper

NM_001963.6

p.I565M

c.1695T>G

1 paper

NM_001963.6

p.G566S

c.1696G>A

4 papers

NM_001963.6

p.D563A

c.1688A>C

2 papers

NM_001963.6

p.D563H

c.1687G>C

1 paper

NM_001963.6

p.R567H

c.1700G>A

1 paper

NM_001963.6

p.V562_I565Fs

c.1686_1693delinsTFs

1 paper

NM_001963.6

p.R568G

c.1702A>G

1 paper

NM_001963.6

p.V562_W564delFs

c.1684_1691del8

2 papers

NM_001963.6

p.A561T

c.1681G>A

1 paper

NM_001963.6

p.F569L

c.1705T>C

1 paper

NM_001963.6

p.F569insFs

c.1705_1706ins4

1 paper

NM_001963.6

p.F569L

c.1707C>A