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.I56N

c.167T>A

Surrounding Variants

1 paper

NM_001963.6

p.S55S

c.165T>C

2 papers

NM_001963.6

p.S55N

c.164G>A

1 paper

NM_001963.6

p.S55insFs

c.164dupG

1 paper

NM_001963.6

p.S55G

c.163A>G

1 paper

NM_001963.6

p.R58_I59ins0

c.173_175dupGGA

1 paper

NM_001963.6

p.R58R

c.172A>C

1 paper

NM_001963.6

p.R58G

c.172A>G

1 paper

NM_001963.6

p.N54S

c.161A>G

1 paper

NM_001963.6

p.N54I

c.161A>T

1 paper

NM_001963.6

p.N54_D60del0

c.162_179del18

3 papers

NM_001963.6

p.R58S

c.174G>C

1 paper

NM_001963.6

p.I59_T64delFs

c.175_190del16