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.T751_S752insFs

c.2253_2254insT

Surrounding Variants

1 paper

NM_005228.5

p.T751_S752insFs

c.2253_2254insG

2 papers

NM_005228.5

p.T751_S752insFs

c.2253_2254ins5

1 paper

NM_005228.5

p.T751T

c.2253A>C

2 papers

NM_005228.5

p.T751T

c.2253A>G

1 paper

NM_005228.5

p.T751T

c.2253A>T

1 paper

NM_005228.5

p.T751Fs

c.2253delinsTTGCTFs

1 paper

NM_005228.5

p.S752delFs

c.2254delT

1 paper

NM_005228.5

p.S752delFs

c.2254_2255delTC

101 papers

NM_005228.5

p.S752del1

c.2254_2255delTCT

1 paper

NM_005228.5

p.S752_P753delFs

c.2254_2257del4

1 paper

NM_005228.5

p.S752_N756del0

c.2254_2268del15

2 papers

NM_005228.5

p.S752_I759delFs

c.2254_2276del23