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.N284_S288del0

c.851_862del12

Surrounding Variants

1 paper

NM_001963.6

p.N284D

c.850A>G

1 paper

NM_001963.6

p.N284Y

c.850A>T

1 paper

NM_001963.6

p.L285del1

c.853_855delCTC

1 paper

NM_001963.6

p.L285I

c.853C>A

6 papers

NM_001963.6

p.L285H

c.854T>A

1 paper

NM_001963.6

p.R282fs

c.844_845fs

1 paper

NM_001963.6

p.H286Y

c.856C>T

1 paper

NM_001963.6

p.H286R

c.857A>G

1 paper

NM_001963.6

p.V281A

c.842T>C

2 papers

NM_001963.6

p.V281L

c.841G>C

1 paper

NM_001963.6

p.V281F

c.841G>T

1 paper

NM_001963.6

p.S287T

c.859T>A