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

3 papers

NM_005228.5

p.K467*

c.1399A>T

Surrounding Variants

1 paper

NM_005228.5

p.K467Q

c.1399A>C

1 paper

NM_005228.5

p.K467E

c.1399A>G

21 papers

NM_005228.5

p.K467T

c.1400A>C

1 paper

NM_005228.5

p.K467I

c.1400A>T

1 paper

NM_005228.5

p.N466T

c.1397A>C

1 paper

NM_005228.5

p.K467N

c.1401A>C

1 paper

NM_005228.5

p.N466S

c.1397A>G

1 paper

NM_005228.5

p.K467N

c.1401A>T

1 paper

NM_005228.5

p.N468_L469del2

c.1402_1406del6

1 paper

NM_005228.5

p.N466fs

c.1396_1397fs

2 papers

NM_005228.5

p.N466D

c.1396A>G

1 paper

NM_005228.5

p.N468D

c.1402A>G