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

2 papers

NM_001963.6

p.K525_I526Splc

c.1576-1G>A

Surrounding Variants

1 paper

NM_001963.6

p.K525_I526Splc

c.1576-1G>T

6 papers

NM_001963.6

p.Y527F

c.1580A>T

1 paper

NM_001963.6

p.Y527*

c.1581C>G

1 paper

NM_001963.6

p.F528insFs

c.1582_1583insC

1 paper

NM_001963.6

p.L533P

c.1598T>C

1 paper

NM_001963.6

p.L533L

c.1599G>A

1 paper

NM_001963.6

p.W535L

c.1604G>T

1 paper

NM_001963.6

p.I536R

c.1607T>G

2 papers

NM_001963.6

p.E537A

c.1610A>C

1 paper

NM_001963.6

p.N540T

c.1619A>C

4 papers

NM_001963.6

p.N540S

c.1619A>G

3 papers

NM_001963.6

p.N540K

c.1620T>A