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.C752delFs

c.2255delG

Surrounding Variants

1 paper

NM_001963.6

p.C752S

c.2254T>A

1 paper

NM_001963.6

p.G751_C752insFs

c.2253_2254insA

1 paper

NM_001963.6

p.G751G

c.2253C>T

1 paper

NM_001963.6

p.C752_E753delFs

c.2254_2257del4

3 papers

NM_001963.6

p.C752_R759del0

c.2254_2277del24

1 paper

NM_001963.6

p.C752delins

c.2255delinsT

1 paper

NM_001963.6

p.G751_R759delins

c.2252_2276delinsA

1 paper

NM_001963.6

p.G751S

c.2251G>A

1 paper

NM_001963.6

p.G751delins

c.2251delinsC

1 paper

NM_001963.6

p.E753delFs

c.2258delA

1 paper

NM_001963.6

p.G751_R759del0

c.2253_2276del24

1 paper

NM_001963.6

p.G750G

c.2250A>G