Varaico: Literature-Extracted Genetic Variants

EGFR

13,423 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR ...

Pfam Domains

Recep_L_domainaa 57–144UCSCReceptor L domain

Recep_L_domainaa 57–168UCSCReceptor L domain

Furin-likeaa 177–338UCSCFurin-like cysteine rich region

Recep_L_domainaa 308–428UCSCReceptor L domain

GF_recep_IVaa 452–584UCSCGrowth factor receptor domain IV

TM_ErbB1aa 593–628UCSCEpidermal growth factor receptor transmembrane-juxtamembrane segment

Gene Aliases

HGNC Name

epidermal growth factor receptor

HGNC Alias Symbols

ERBB1; ERRP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005228.5

p.P564A

c.1690C>G

Surrounding Variants

3 papers

NM_005228.5

p.P564S

c.1690C>T

2 papers

NM_005228.5

p.P564L

c.1691C>T

2 papers

NM_005228.5

p.L563L

c.1687C>T

2 papers

NM_005228.5

p.Q565*

c.1693C>T

2 papers

NM_005228.5

p.Q565L

c.1694A>T

1 paper

NM_005228.5

p.C562Y

c.1685G>A

1 paper

NM_005228.5

p.Q565Q

c.1695G>A

2 papers

NM_005228.5

p.A566T

c.1696G>A

1 paper

NM_005228.5

p.C562R

c.1684T>C

1 paper

NM_005228.5

p.A566_M567insFs

c.1698_1699insG

1 paper

NM_005228.5

p.M567V

c.1699A>G

4 papers

NM_005228.5

p.E561K

c.1681G>A