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

93 papers

NM_005228.5

p.R72S

c.216G>T

Surrounding Variants

2 papers

NM_005228.5

p.R72R

c.216G>A

1 paper

NM_005228.5

p.R72_N73insFs

c.216_217insC

3 papers

NM_005228.5

p.R72K

c.215G>A

1 paper

NM_005228.5

p.R72T

c.215G>C

1 paper

NM_005228.5

p.R72M

c.215G>T

1 paper

NM_005228.5

p.R72G

c.214A>G

1 paper

NM_005228.5

p.Q71_R72insFs

c.213_214insT

1 paper

NM_005228.5

p.N73K

c.219T>A

1 paper

NM_005228.5

p.Q71R

c.212A>G

2 papers

NM_005228.5

p.Q71L

c.212A>T

1 paper

NM_005228.5

p.Y74N

c.220T>A

1 paper

NM_005228.5

p.Y74H

c.220T>C