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

35 papers

NM_001963.6

p.L33R

c.98T>G

Surrounding Variants

1 paper

NM_001963.6

p.L33H

c.98T>A

5 papers

NM_001963.6

p.L33P

c.98T>C

1 paper

NM_001963.6

p.L33_A34ins6

c.97_101ins18

1 paper

NM_001963.6

p.L33_A34insFs

c.99_100insT

3 papers

NM_001963.6

p.L33V

c.97C>G

1 paper

NM_001963.6

p.A34T

c.100G>A

1 paper

NM_001963.6

p.T32T

c.96T>G

1 paper

NM_001963.6

p.T32P

c.94A>C

1 paper

NM_001963.6

p.G35R

c.103G>C

1 paper

NM_001963.6

p.G35_N36ins6

c.103_107ins18

1 paper

NM_001963.6

p.G31G

c.93T>G

3 papers

NM_001963.6

p.G31A

c.92G>C