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

5 papers

NM_001963.6

p.G850R

c.2548G>A

Surrounding Variants

1 paper

NM_001963.6

p.G850R

c.2548G>C

1 paper

NM_001963.6

p.E849E

c.2547G>A

1 paper

NM_001963.6

p.E849V

c.2546A>T

2 papers

NM_001963.6

p.E851K

c.2551G>A

1 paper

NM_001963.6

p.E851_Q856del0

c.2552_2566del15

1 paper

NM_001963.6

p.S848L

c.2543C>T

1 paper

NM_001963.6

p.E851_D852insFs

c.2553_2554ins4

1 paper

NM_001963.6

p.A853_C855del3

c.2557_2564del9

1 paper

NM_001963.6

p.A853T

c.2557G>A

6 papers

NM_001963.6

p.T854A

c.2560A>G

1 paper

NM_001963.6

p.T854S

c.2560A>T

1 paper

NM_001963.6

p.C846G

c.2536T>G