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

1–12 of 1785 variants

37 papers

NM_001963.6

p.L858W

c.2573T>G

35 papers

NM_001963.6

p.L33R

c.98T>G

19 papers

NM_001963.6

p.V12F

c.34G>T

18 papers

NM_001963.6

p.V12I

c.34G>A

17 papers

NM_001963.6

p.C745_G750del0

c.2235_2249del15

16 papers

NM_001963.6

p.T64N

c.191C>A

15 papers

NM_001963.6

p.G466V

c.1397G>T

15 papers

NM_001963.6

p.F861Y

c.2582T>A

12 papers

NM_001963.6

p.V12L

c.34G>C

12 papers

NM_001963.6

p.L746_G750del0

c.2236_2250del15

11 papers

NM_001963.6

p.D542N

c.1624G>A

11 papers

NM_001963.6

p.Y747_C752del0

c.2240_2254del15