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.D468N

c.1402G>A

Surrounding Variants

4 papers

NM_001963.6

p.D468Y

c.1402G>T

1 paper

NM_001963.6

p.D468delFs

c.1404delC

1 paper

NM_001963.6

p.D468E

c.1404C>A

1 paper

NM_001963.6

p.L469L

c.1407A>T

4 papers

NM_001963.6

p.G466E

c.1397G>A

2 papers

NM_001963.6

p.G466A

c.1397G>C

15 papers

NM_001963.6

p.G466V

c.1397G>T

1 paper

NM_001963.6

p.Q470K

c.1408C>A

3 papers

NM_001963.6

p.G466R

c.1396G>A

3 papers

NM_001963.6

p.G466R

c.1396G>C

1 paper

NM_001963.6

p.G466delFs

c.1398delG

1 paper

NM_001963.6

p.P465T

c.1393C>A