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.T64S

c.190A>T

Surrounding Variants

16 papers

NM_001963.6

p.T64N

c.191C>A

1 paper

NM_001963.6

p.T64_E67Fs

c.192_201delinsGGACTTCAFs

1 paper

NM_001963.6

p.G63E

c.188G>A

1 paper

NM_001963.6

p.G63V

c.188G>T

1 paper

NM_001963.6

p.N65D

c.193A>G

1 paper

NM_001963.6

p.N65_Y66insFs

c.195_196insT

1 paper

NM_001963.6

p.N65I

c.194A>T

1 paper

NM_001963.6

p.E62A

c.185A>C

2 papers

NM_001963.6

p.E62insFs

c.185_186insA

1 paper

NM_001963.6

p.E62_N65delFs

c.185_195del11

1 paper

NM_001963.6

p.Y66_E67insG

c.196_200ins3

8 papers

NM_001963.6

p.T61T

c.183A>C