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.L788V

c.2362C>G

Surrounding Variants

6 papers

NM_001963.6

p.Q787Q

c.2361G>A

1 paper

NM_001963.6

p.L788Q

c.2363T>A

1 paper

NM_001963.6

p.Q787R

c.2360A>G

8 papers

NM_001963.6

p.A790V

c.2369C>T

1 paper

NM_001963.6

p.A790delins

c.2369_2370delinsTT

1 paper

NM_001963.6

p.G785D

c.2354G>A

1 paper

NM_001963.6

p.G791D

c.2372G>A

6 papers

NM_001963.6

p.D784V

c.2351A>T

1 paper

NM_001963.6

p.L781L

c.2341C>T

1 paper

NM_001963.6

p.K778insFs

c.2333_2334insC

1 paper

NM_001963.6

p.G777G

c.2331G>A

1 paper

NM_001963.6

p.D776_G777ins3

c.2328_2329ins9