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.K14T

c.41A>C

Surrounding Variants

1 paper

NM_001963.6

p.K14insFs

c.40_41ins16

1 paper

NM_001963.6

p.F15I

c.43T>A

1 paper

NM_001963.6

p.F15L

c.43T>C

1 paper

NM_001963.6

p.F15V

c.43T>G

1 paper

NM_001963.6

p.S13delins

c.38_39delinsAG

1 paper

NM_001963.6

p.F15Y

c.44T>A

1 paper

NM_001963.6

p.F15S

c.44T>C

1 paper

NM_001963.6

p.F15L

c.45T>A

1 paper

NM_001963.6

p.S13P

c.37T>C

3 papers

NM_001963.6

p.F15L

c.45T>G

6 papers

NM_001963.6

p.S16R

c.46A>C

1 paper

NM_001963.6

p.V12V

c.36T>A