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.R759K

c.2276G>A

Surrounding Variants

1 paper

NM_001963.6

p.R759_L760insFs

c.2277_2278insT

2 papers

NM_001963.6

p.L760F

c.2278C>T

1 paper

NM_001963.6

p.K758M

c.2273A>T

1 paper

NM_001963.6

p.L760P

c.2279T>C

1 paper

NM_001963.6

p.K757_K758insFs

c.2271_2272insG

3 papers

NM_001963.6

p.K757N

c.2271A>C

2 papers

NM_001963.6

p.K757N

c.2271A>T

1 paper

NM_001963.6

p.K757T

c.2270A>C

7 papers

NM_001963.6

p.K757R

c.2270A>G

1 paper

NM_001963.6

p.K757insFs

c.2269_2270insT

3 papers

NM_001963.6

p.K757E

c.2269A>G

1 paper

NM_001963.6

p.A763insFs

c.2287_2288ins4