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.F81insFs

c.242_243insC

Surrounding Variants

1 paper

NM_001963.6

p.F81S

c.242T>C

2 papers

NM_001963.6

p.F81L

c.243T>A

2 papers

NM_001963.6

p.F81L

c.241T>C

2 papers

NM_001963.6

p.F81L

c.243T>G

1 paper

NM_001963.6

p.H82fs

c.244_245fs

1 paper

NM_001963.6

p.D80insFs

c.239_240insC

1 paper

NM_001963.6

p.D80A

c.239A>C

1 paper

NM_001963.6

p.D80G

c.239A>G

2 papers

NM_001963.6

p.D80V

c.239A>T

2 papers

NM_001963.6

p.H82L

c.245A>T

2 papers

NM_001963.6

p.D80N

c.238G>A

1 paper

NM_001963.6

p.D80H

c.238G>C