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.L249_F250delFs

c.746_750del5

Surrounding Variants

1 paper

NM_001963.6

p.N248I

c.743A>T

1 paper

NM_001963.6

p.L249delFs

c.746delT

1 paper

NM_001963.6

p.L249_F250delFs

c.746_749del4

2 papers

NM_001963.6

p.L249_F250del0

c.745_750del6

2 papers

NM_001963.6

p.L249_A251del0

c.746_751del6

1 paper

NM_001963.6

p.L249_A251delFs

c.746_752del7

1 paper

NM_001963.6

p.H247delFs

c.741delT

1 paper

NM_001963.6

p.L249_A251delFs

c.747_751del5

1 paper

NM_001963.6

p.L249_A251del0

c.747_752del6

1 paper

NM_001963.6

p.L249_A251delFs

c.747_753del7

1 paper

NM_001963.6

p.F250I

c.748T>A

1 paper

NM_001963.6

p.F250_M252del0

c.749_754del6