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.D555E

c.1665T>A

Surrounding Variants

1 paper

NM_001963.6

p.D555E

c.1665T>G

1 paper

NM_001963.6

p.V554L

c.1660G>T

1 paper

NM_001963.6

p.P557P

c.1671A>T

1 paper

NM_001963.6

p.G553E

c.1658G>A

1 paper

NM_001963.6

p.G553insFs

c.1657_1658insC

1 paper

NM_001963.6

p.E551K

c.1651G>A

4 papers

NM_001963.6

p.L560R

c.1679T>G

2 papers

NM_001963.6

p.A561T

c.1681G>A

1 paper

NM_001963.6

p.V562_W564delFs

c.1684_1691del8

1 paper

NM_001963.6

p.L549P

c.1646T>C

1 paper

NM_001963.6

p.L549R

c.1646T>G

1 paper

NM_001963.6

p.V562_I565Fs

c.1686_1693delinsTFs