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.S475I

c.1424G>T

Surrounding Variants

1 paper

NM_001963.6

p.S475N

c.1424G>A

1 paper

NM_001963.6

p.C476R

c.1426T>C

2 papers

NM_001963.6

p.K474E

c.1420A>G

1 paper

NM_001963.6

p.C476_A477insFs

c.1428_1429insC

1 paper

NM_001963.6

p.E473A

c.1418A>C

1 paper

NM_001963.6

p.E473K

c.1417G>A

1 paper

NM_001963.6

p.A478T

c.1432G>A

1 paper

NM_001963.6

p.A478_S479insT

c.1432_1436ins3

1 paper

NM_001963.6

p.A478S

c.1432G>T

2 papers

NM_001963.6

p.D472E

c.1416T>A

1 paper

NM_001963.6

p.D472E

c.1416T>G

2 papers

NM_001963.6

p.A478V

c.1433C>T