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

2 papers

NM_001963.6

p.A272A

c.816C>T

Surrounding Variants

1 paper

NM_001963.6

p.N273insFs

c.817dupA

2 papers

NM_001963.6

p.N273delFs

c.819delC

1 paper

NM_001963.6

p.A272S

c.814G>T

1 paper

NM_001963.6

p.N273N

c.819C>T

1 paper

NM_001963.6

p.I271L

c.811A>T

3 papers

NM_001963.6

p.W270*

c.810G>A

2 papers

NM_001963.6

p.W270C

c.810G>C

1 paper

NM_001963.6

p.T276fs

c.826_827fs

1 paper

NM_001963.6

p.I269F

c.805A>T

4 papers

NM_001963.6

p.G277R

c.829G>A

1 paper

NM_001963.6

p.G277R

c.829G>C

1 paper

NM_001963.6

p.T268A

c.802A>G