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.E67*

c.199G>T

Surrounding Variants

1 paper

NM_001963.6

p.E67K

c.199G>A

2 papers

NM_001963.6

p.E67A

c.200A>C

1 paper

NM_001963.6

p.Q68_L69del2

c.202_206del6

1 paper

NM_001963.6

p.E67_L69del0

c.199_207del9

1 paper

NM_001963.6

p.Y66C

c.197A>G

1 paper

NM_001963.6

p.Y66F

c.197A>T

2 papers

NM_001963.6

p.Q68ins1

c.202_203insACC

1 paper

NM_001963.6

p.Y66_E67insG

c.196_200ins3

2 papers

NM_001963.6

p.Q68insFs

c.203_204insC

1 paper

NM_001963.6

p.Q68L

c.203A>T

1 paper

NM_001963.6

p.N65_Y66insFs

c.195_196insT

1 paper

NM_001963.6

p.N65I

c.194A>T