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.E109A

c.326A>C

Surrounding Variants

1 paper

NM_001963.6

p.E109K

c.325G>A

1 paper

NM_001963.6

p.E109fs

c.325_326fs

1 paper

NM_001963.6

p.Q108H

c.324A>T

1 paper

NM_001963.6

p.E109_R110Splc

c.327+1G>A

1 paper

NM_001963.6

p.E109_R110Splc

c.327+1G>C

1 paper

NM_001963.6

p.Q108K

c.322C>A

1 paper

NM_001963.6

p.Q108*

c.322C>T

1 paper

NM_001963.6

p.R107K

c.320G>A

5 papers

NM_001963.6

p.R107W

c.319A>T

2 papers

NM_001963.6

p.S106_R107insFs

c.318_319insC

1 paper

NM_001963.6

p.S106A

c.316T>G

1 paper

NM_001963.6

p.G105A

c.314G>C