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

37 papers

NM_001963.6

p.L858W

c.2573T>G

Surrounding Variants

2 papers

NM_001963.6

p.L858*

c.2573T>A

1 paper

NM_001963.6

p.L858delins

c.2573_2574delinsGT

2 papers

NM_001963.6

p.L858F

c.2574G>T

5 papers

NM_001963.6

p.L858M

c.2572T>A

2 papers

NM_001963.6

p.L858L

c.2572T>C

1 paper

NM_001963.6

p.L858V

c.2572T>G

1 paper

NM_001963.6

p.L858delins

c.2572_2573delinsAG

1 paper

NM_001963.6

p.Q856insFs

c.2567_2568insT

1 paper

NM_001963.6

p.G860E

c.2579G>A

1 paper

NM_001963.6

p.Q856*

c.2566C>T

1 paper

NM_001963.6

p.C855C

c.2565T>C

1 paper

NM_001963.6

p.C855W

c.2565T>G