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.G543V

c.1628G>T

Surrounding Variants

1 paper

NM_001963.6

p.G543insFs

c.1628_1629insT

2 papers

NM_001963.6

p.S544A

c.1630T>G

2 papers

NM_001963.6

p.D542G

c.1625A>G

1 paper

NM_001963.6

p.S544Y

c.1631C>A

1 paper

NM_001963.6

p.S544F

c.1631C>T

11 papers

NM_001963.6

p.D542N

c.1624G>A

1 paper

NM_001963.6

p.Q545*

c.1633C>T

1 paper

NM_001963.6

p.M541I

c.1623G>A

2 papers

NM_001963.6

p.Q545P

c.1634A>C

3 papers

NM_001963.6

p.Q545R

c.1634A>G

1 paper

NM_001963.6

p.Q545Q

c.1635G>A

1 paper

NM_001963.6

p.Q545H

c.1635G>T