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.C745_G750del6

c.2233_2249del18

Surrounding Variants

1 paper

NM_001963.6

p.C745_Q748del4

c.2233_2243del12

1 paper

NM_001963.6

p.P744_G750delins

c.2232_2248delinsTAAAATTC

17 papers

NM_001963.6

p.C745_G750del0

c.2235_2249del15

5 papers

NM_001963.6

p.L746_C752del0

c.2237_2254del18

2 papers

NM_001963.6

p.P744S

c.2230C>T

1 paper

NM_001963.6

p.L746_N749del4

c.2236_2246del12

1 paper

NM_001963.6

p.L746del1

c.2236_2237delTTA

1 paper

NM_001963.6

p.C745_Y747delins

c.2235_2241delinsAATTCCC

1 paper

NM_001963.6

p.L746_Q748del0

c.2236_2244del9

12 papers

NM_001963.6

p.L746_G750del0

c.2236_2250del15

1 paper

NM_001963.6

p.C745_G751delins

c.2235_2253delinsAACC

1 paper

NM_001963.6

p.L746_G751delFs

c.2236_2252del17