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.L69L

c.205T>C

Surrounding Variants

1 paper

NM_001963.6

p.L69M

c.205T>A

1 paper

NM_001963.6

p.L69*

c.206T>A

2 papers

NM_001963.6

p.Q68insFs

c.203_204insC

1 paper

NM_001963.6

p.Q68L

c.203A>T

3 papers

NM_001963.6

p.V70M

c.208G>A

1 paper

NM_001963.6

p.V70delFs

c.209delT

2 papers

NM_001963.6

p.Q68ins1

c.202_203insACC

2 papers

NM_001963.6

p.V71delFs

c.211delG

2 papers

NM_001963.6

p.E67A

c.200A>C

1 paper

NM_001963.6

p.Q68_L69del2

c.202_206del6

1 paper

NM_001963.6

p.E67K

c.199G>A

1 paper

NM_001963.6

p.E67*

c.199G>T