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.E59*

c.175G>T

Surrounding Variants

6 papers

NM_005228.5

p.E59K

c.175G>A

1 paper

NM_005228.5

p.E59Q

c.175G>C

1 paper

NM_005228.5

p.E59G

c.176A>G

1 paper

NM_005228.5

p.E59_N64delFs

c.175_190del16

1 paper

NM_005228.5

p.E59_L65del7

c.175_194del21

3 papers

NM_005228.5

p.V60M

c.178G>A

3 papers

NM_005228.5

p.V60L

c.178G>C

3 papers

NM_005228.5

p.V60L

c.178G>T

1 paper

NM_005228.5

p.V60A

c.179T>C

1 paper

NM_005228.5

p.V60G

c.179T>G

2 papers

NM_005228.5

p.N57S

c.170A>G

1 paper

NM_005228.5

p.N57_V61del0

c.171_182del12