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.V774_C775ins1

c.2322_2323insCAC

Surrounding Variants

1 paper

NM_005228.5

p.V774V

c.2322G>A

2 papers

NM_005228.5

p.V774V

c.2322G>C

1 paper

NM_005228.5

p.V774_C775insFs

c.2322_2323ins4

2 papers

NM_005228.5

p.V774_C775ins2

c.2322_2323ins6

2 papers

NM_005228.5

p.V774_C775ins4

c.2322_2323ins12

2 papers

NM_005228.5

p.C775S

c.2323T>A

19 papers

NM_005228.5

p.V774A

c.2321T>C

4 papers

NM_005228.5

p.C775R

c.2323T>C

1 paper

NM_005228.5

p.V774insFs

c.2321_2322ins4

3 papers

NM_005228.5

p.C775_R776ins4

c.2325_2326ins12

1 paper

NM_005228.5

p.V774ins2

c.2321_2322ins6

1 paper

NM_005228.5

p.V774delins

c.2320_2322delinsGCAACCCCCAGC