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.S262S

c.786A>T

Surrounding Variants

1 paper

NM_001963.6

p.S262*

c.785C>A

1 paper

NM_001963.6

p.S262L

c.785C>T

1 paper

NM_001963.6

p.S262_K267delFs

c.786_801del16

1 paper

NM_001963.6

p.T263K

c.788C>A

2 papers

NM_001963.6

p.T263I

c.788C>T

3 papers

NM_001963.6

p.Y261*

c.783T>A

1 paper

NM_001963.6

p.Y261Y

c.783T>C

1 paper

NM_001963.6

p.Y261C

c.782A>G

1 paper

NM_001963.6

p.W264_K265insG

c.790_794ins3

1 paper

NM_001963.6

p.W264*

c.791G>A

1 paper

NM_001963.6

p.Y261N

c.781T>A

1 paper

NM_001963.6

p.W264*

c.792G>A