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

3 papers

NM_005228.5

p.N56T

c.167A>C

Surrounding Variants

2 papers

NM_005228.5

p.N56S

c.167A>G

1 paper

NM_005228.5

p.N56D

c.166A>G

1 paper

NM_005228.5

p.N56K

c.168T>A

2 papers

NM_005228.5

p.N56K

c.168T>G

1 paper

NM_005228.5

p.N57_V61del5

c.169_182del15

2 papers

NM_005228.5

p.N57D

c.169A>G

1 paper

NM_005228.5

p.N57Y

c.169A>T

2 papers

NM_005228.5

p.N57S

c.170A>G

1 paper

NM_005228.5

p.N57_V61del0

c.171_182del12

1 paper

NM_005228.5

p.N56_N57del2

c.166_170del6

1 paper

NM_005228.5

p.F55I

c.163T>A

1 paper

NM_005228.5

p.M54I

c.162G>A