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.K267K

c.801G>A

Surrounding Variants

1 paper

NM_001963.6

p.K267N

c.801G>C

1 paper

NM_001963.6

p.K267T

c.800A>C

1 paper

NM_001963.6

p.K267R

c.800A>G

1 paper

NM_001963.6

p.T268A

c.802A>G

1 paper

NM_001963.6

p.T268_I271delFs

c.803_812del10

1 paper

NM_001963.6

p.K267fs

c.799_800fs

1 paper

NM_001963.6

p.K267Q

c.799A>C

1 paper

NM_001963.6

p.K267insFs

c.800_801insA

1 paper

NM_001963.6

p.I269F

c.805A>T

3 papers

NM_001963.6

p.W270*

c.810G>A

1 paper

NM_001963.6

p.W264*

c.792G>A

2 papers

NM_001963.6

p.W270C

c.810G>C