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.A73delFs

c.218delC

Surrounding Variants

1 paper

NM_001963.6

p.A73insFs

c.218_219insG

1 paper

NM_001963.6

p.A73V

c.218C>T

1 paper

NM_001963.6

p.D72A

c.215A>C

1 paper

NM_001963.6

p.A73A

c.219T>A

4 papers

NM_001963.6

p.G74S

c.220G>A

1 paper

NM_001963.6

p.D72N

c.214G>A

1 paper

NM_001963.6

p.G74C

c.220G>T

1 paper

NM_001963.6

p.V75I

c.223G>A

1 paper

NM_001963.6

p.V75V

c.225C>A

2 papers

NM_001963.6

p.V71delFs

c.211delG

3 papers

NM_001963.6

p.V70M

c.208G>A

1 paper

NM_001963.6

p.V70delFs

c.209delT