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.N38_V42delFs

c.112_124del13

Surrounding Variants

1 paper

NM_001963.6

p.G37R

c.109G>A

1 paper

NM_001963.6

p.N38_S39insG

c.112_116ins3

2 papers

NM_001963.6

p.N36K

c.108T>A

1 paper

NM_001963.6

p.N38I

c.113A>T

1 paper

NM_001963.6

p.N36Y

c.106A>T

1 paper

NM_001963.6

p.N38K

c.114T>A

2 papers

NM_001963.6

p.N38N

c.114T>C

1 paper

NM_001963.6

p.N38_S39insFs

c.114_115insA

1 paper

NM_001963.6

p.S39P

c.115T>C

2 papers

NM_001963.6

p.S39A

c.115T>G

1 paper

NM_001963.6

p.S39F

c.116C>T

1 paper

NM_001963.6

p.G35R

c.103G>C