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.A45V

c.134C>T

Surrounding Variants

1 paper

NM_001963.6

p.A45G

c.134C>G

1 paper

NM_001963.6

p.A45A

c.135A>C

3 papers

NM_001963.6

p.A45T

c.133G>A

1 paper

NM_001963.6

p.P46S

c.136C>T

1 paper

NM_001963.6

p.P44R

c.131C>G

1 paper

NM_001963.6

p.P44T

c.130C>A

1 paper

NM_001963.6

p.G43G

c.129T>A

1 paper

NM_001963.6

p.G43G

c.129T>C

1 paper

NM_001963.6

p.F47L

c.139T>C

1 paper

NM_001963.6

p.G43V

c.128G>T

1 paper

NM_001963.6

p.G43Splc

c.128-1G>A

1 paper

NM_001963.6

p.G43Splc

c.128-2A>G