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

7106 papers

NM_005228.5

p.L858R

c.2573T>G

NM_001346897.2

p.L813R

c.2438T>G

NM_001346941.2

p.L591R

c.1772T>G

NM_001346900.2

p.L805R

c.2414T>G

Surrounding Variants

32 papers

NM_005228.5

p.L858Q

c.2573T>A

17 papers

NM_005228.5

p.L858P

c.2573T>C

1 paper

NM_005228.5

p.L858Fs

c.2573delinsTCGFs

2 papers

NM_005228.5

p.A859insFs

c.2575_2576insG

12 papers

NM_005228.5

p.L858delins

c.2573_2574delinsGA

5 papers

NM_005228.5

p.L858delins

c.2573_2574delinsGC

27 papers

NM_005228.5

p.L858delins

c.2573_2574delinsGT

1 paper

NM_005228.5

p.L858_A859delins

c.2573_2575delinsGGA

1 paper

NM_005228.5

p.L858_K860delins

c.2573_2579delinsGGACCAT

83 papers

NM_005228.5

p.L858M

c.2572C>A

1 paper

NM_005228.5

p.L858fs

c.2572_2573fs

3 papers

NM_005228.5

p.L858V

c.2572C>G