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.S768T

c.2303G>C

Surrounding Variants

17 papers

NM_005228.5

p.S768N

c.2303G>A

1 paper

NM_005228.5

p.S768_V769insFs

c.2304_2305ins4

2 papers

NM_005228.5

p.V769_D770ins3

c.2307_2308ins9

1 paper

NM_005228.5

p.P772_H773ins4

c.2316_2317ins12

1 paper

NM_005228.5

p.D770_V774ins1

c.2308_2322dup15

3 papers

NM_005228.5

p.D770ins3

c.2308_2309ins9

1 paper

NM_005228.5

p.D770ins3

c.2308_2309ins9

1 paper

NM_005228.5

p.V769_D770ins3

c.2307_2308ins9

1 paper

NM_005228.5

p.S768ins3

c.2303_2304ins9

2 papers

NM_005228.5

p.S768ins3

c.2303_2304ins9

1441 papers

NM_005228.5

p.S768I

c.2303G>T

1 paper

NM_005228.5

p.S768delins

c.2303_2304delinsTT