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.A306T

c.916G>A

Surrounding Variants

1 paper

NM_001963.6

p.A306S

c.916G>T

1 paper

NM_001963.6

p.A306G

c.917C>G

1 paper

NM_001963.6

p.K305K

c.915G>A

2 papers

NM_001963.6

p.K305N

c.915G>C

1 paper

NM_001963.6

p.K305M

c.914A>T

1 paper

NM_001963.6

p.E307K

c.919G>A

2 papers

NM_001963.6

p.E307A

c.920A>C

1 paper

NM_001963.6

p.P304P

c.912C>G

1 paper

NM_001963.6

p.P304L

c.911C>T

2 papers

NM_001963.6

p.P304S

c.910C>T

3 papers

NM_001963.6

p.D308N

c.922G>A

1 paper

NM_001963.6

p.D308insFs

c.922_923ins4