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.N104I

c.311A>T

Surrounding Variants

1 paper

NM_001963.6

p.N104H

c.310A>C

1 paper

NM_001963.6

p.N104delFs

c.311_312delAT

1 paper

NM_001963.6

p.L103L

c.309G>A

1 paper

NM_001963.6

p.G105A

c.314G>C

1 paper

NM_001963.6

p.L103R

c.308T>G

1 paper

NM_001963.6

p.S106A

c.316T>G

2 papers

NM_001963.6

p.F102C

c.305T>G

2 papers

NM_001963.6

p.S106_R107insFs

c.318_319insC

5 papers

NM_001963.6

p.R107W

c.319A>T

1 paper

NM_001963.6

p.R107K

c.320G>A

1 paper

NM_001963.6

p.V101G

c.302T>G

1 paper

NM_001963.6

p.V101I

c.301G>A