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.I59S

c.176T>G

Surrounding Variants

1 paper

NM_001963.6

p.I59insFs

c.175_176ins14

1 paper

NM_001963.6

p.I59F

c.175A>T

3 papers

NM_001963.6

p.R58S

c.174G>C

2 papers

NM_001963.6

p.D60H

c.178G>C

1 paper

NM_001963.6

p.I59_T64delFs

c.175_190del16

2 papers

NM_001963.6

p.D60A

c.179A>C

1 paper

NM_001963.6

p.R58R

c.172A>C

1 paper

NM_001963.6

p.R58G

c.172A>G

1 paper

NM_001963.6

p.T61A

c.181A>G

1 paper

NM_001963.6

p.R58_I59ins0

c.173_175dupGGA

1 paper

NM_001963.6

p.T61K

c.182C>A

1 paper

NM_001963.6

p.T61R

c.182C>G