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

1–12 of 6124 variants

7105 papers

NM_005228.5

p.L858R

c.2573T>G

5836 papers

NM_005228.5

p.T790M

c.2369C>T

2058 papers

NM_005228.5

p.L861Q

c.2582T>A

1441 papers

NM_005228.5

p.S768I

c.2303G>T

1069 papers

NM_005228.5

p.G719A

c.2156G>C

1062 papers

NM_005228.5

p.C797S

c.2389T>A

1062 papers

NM_005228.5

p.C797S

c.2390G>C

1023 papers

NM_005228.5

p.G719S

c.2155G>A

1003 papers

NM_005228.5

p.C240Y

c.719G>A

726 papers

NM_005228.5

p.G719C

c.2155G>T

677 papers

NM_005228.5

p.C240S

c.719G>C

372 papers

NM_005228.5

p.K745_A750del0

c.2235_2249del15