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

2 papers

NM_005228.5

p.I213M

c.639C>G

Surrounding Variants

1 paper

NM_005228.5

p.I213I

c.639C>T

1 paper

NM_005228.5

p.I214V

c.640A>G

1 paper

NM_005228.5

p.I214delFs

c.641delT

2 papers

NM_005228.5

p.I213T

c.638T>C

1 paper

NM_005228.5

p.I213_I214insT

c.637_641ins3

1 paper

NM_005228.5

p.I213L

c.637A>C

1 paper

NM_005228.5

p.I213F

c.637A>T

1 paper

NM_005228.5

p.I214M

c.642C>G

3 papers

NM_005228.5

p.C215S

c.643T>A

1 paper

NM_005228.5

p.K212*

c.634A>T

2 papers

NM_005228.5

p.C215Y

c.644G>A

3 papers

NM_005228.5

p.C215S

c.644G>C