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.F50_G53del0

c.148_159del12

Surrounding Variants

1 paper

NM_001963.6

p.F50L

c.148T>C

1 paper

NM_001963.6

p.L48F

c.144A>T

1 paper

NM_001963.6

p.F50L

c.150C>A

1 paper

NM_001963.6

p.F50L

c.150C>G

2 papers

NM_001963.6

p.S51F

c.152C>T

2 papers

NM_001963.6

p.S51S

c.153C>T

2 papers

NM_001963.6

p.H52Y

c.154C>T

2 papers

NM_001963.6

p.H52R

c.155A>G

1 paper

NM_001963.6

p.F47L

c.139T>C

1 paper

NM_001963.6

p.G53delFs

c.157delG

1 paper

NM_001963.6

p.G53*

c.157G>T

1 paper

NM_001963.6

p.P46S

c.136C>T