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

6 papers

NM_001963.6

p.V290A

c.869T>C

Surrounding Variants

1 paper

NM_001963.6

p.V290G

c.869T>G

1 paper

NM_001963.6

p.V290V

c.870A>G

1 paper

NM_001963.6

p.V290L

c.868G>T

1 paper

NM_001963.6

p.V290fs

c.868_869fs

2 papers

NM_001963.6

p.F289Y

c.866T>A

1 paper

NM_001963.6

p.P291P

c.873A>C

1 paper

NM_001963.6

p.F289insFs

c.866_867insCT

1 paper

NM_001963.6

p.S288S

c.864A>T

1 paper

NM_001963.6

p.S288delFs

c.864delA

1 paper

NM_001963.6

p.L292H

c.875T>A

8 papers

NM_001963.6

p.S288T

c.862T>A

4 papers

NM_001963.6

p.G293S

c.877G>A