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

4 papers

NM_005228.5

p.N771ins3

c.2311_2312ins9

Surrounding Variants

2 papers

NM_005228.5

p.D770E

c.2310C>A

1 paper

NM_005228.5

p.N771insFs

c.2312dupA

1 paper

NM_005228.5

p.H773ins3

c.2317_2318ins9

1 paper

NM_005228.5

p.P772_H773ins3

c.2316_2317ins9

1 paper

NM_005228.5

p.D770_N771ins1

c.2310_2311insACA

1 paper

NM_005228.5

p.N771ins3

c.2311_2312ins9

1 paper

NM_005228.5

p.D770_N771ins2

c.2310_2311ins6

1 paper

NM_005228.5

p.D770_N771ins1

c.2310_2311insCCA

1 paper

NM_005228.5

p.D770_N771insFs

c.2310_2311insG

1 paper

NM_005228.5

p.D770_N771ins2

c.2310_2311ins6

1 paper

NM_005228.5

p.D770_N771ins3

c.2310_2311ins9

1 paper

NM_005228.5

p.D770_N771ins4

c.2310_2311ins12