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.L2V

c.4C>G

Surrounding Variants

2 papers

NM_001963.6

p.L2insFs

c.4_5insT

4 papers

NM_001963.6

p.L2L

c.4C>T

4 papers

NM_001963.6

p.M1I

c.3G>A

3 papers

NM_001963.6

p.M1I

c.3G>C

3 papers

NM_001963.6

p.M1I

c.3G>T

1 paper

NM_001963.6

p.L2P

c.5T>C

1 paper

NM_001963.6

p.L2L

c.6G>T

1 paper

NM_001963.6

p.L3_V12del10

c.7_35del30

3 papers

NM_001963.6

p.M1K

c.2T>A

5 papers

NM_001963.6

p.M1T

c.2T>C

2 papers

NM_001963.6

p.M1R

c.2T>G

1 paper

NM_001963.6

p.M1Fs

c.2delinsTGFs