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.C28delFs

c.82delT

Surrounding Variants

1 paper

NM_001963.6

p.S27_C28insFs

c.81_82insG

1 paper

NM_001963.6

p.S27R

c.81C>G

1 paper

NM_001963.6

p.S27N

c.80G>A

1 paper

NM_001963.6

p.S27insFs

c.80_81insT

1 paper

NM_001963.6

p.C28S

c.82T>A

1 paper

NM_001963.6

p.C28insFs

c.82_83insG

1 paper

NM_001963.6

p.S27R

c.79A>C

1 paper

NM_001963.6

p.S27G

c.79A>G

1 paper

NM_001963.6

p.S27C

c.79A>T

2 papers

NM_001963.6

p.C28Y

c.83G>A

2 papers

NM_001963.6

p.C28S

c.83G>C

1 paper

NM_001963.6

p.C28_P29insFs

c.84_85insT