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.D834delFs

c.2502delC

Surrounding Variants

2 papers

NM_001963.6

p.D833G

c.2498A>G

1 paper

NM_001963.6

p.Q832*

c.2494C>T

1 paper

NM_001963.6

p.V838A

c.2513T>C

1 paper

NM_001963.6

p.C840*

c.2520C>A

1 paper

NM_001963.6

p.S841C

c.2521A>T

1 paper

NM_001963.6

p.M842V

c.2524A>G

1 paper

NM_001963.6

p.Y843_A844Fs

c.2529_2530delinsAFs

1 paper

NM_001963.6

p.R845W

c.2533C>T

1 paper

NM_001963.6

p.C846G

c.2536T>G

1 paper

NM_001963.6

p.S848L

c.2543C>T

1 paper

NM_001963.6

p.E849V

c.2546A>T

1 paper

NM_001963.6

p.E849E

c.2547G>A