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.V12V

c.36T>A

Surrounding Variants

1 paper

NM_001963.6

p.V12V

c.36T>G

1 paper

NM_001963.6

p.V12_S13insFs

c.36_37insC

2 papers

NM_001963.6

p.V12D

c.35T>A

1 paper

NM_001963.6

p.S13P

c.37T>C

1 paper

NM_001963.6

p.V12G

c.35T>G

1 paper

NM_001963.6

p.V12ins2

c.35_36ins6

1 paper

NM_001963.6

p.V12delins

c.35_36delinsAG

1 paper

NM_001963.6

p.S13delins

c.38_39delinsAG

18 papers

NM_001963.6

p.V12I

c.34G>A

12 papers

NM_001963.6

p.V12L

c.34G>C

19 papers

NM_001963.6

p.V12F

c.34G>T

1 paper

NM_001963.6

p.V11_V12ins2

c.33_34ins6