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

1 paper

NM_005228.5

p.G449*

c.1345G>T

Surrounding Variants

2 papers

NM_005228.5

p.G449R

c.1345G>A

5 papers

NM_005228.5

p.G449V

c.1346G>T

1 paper

NM_005228.5

p.L448*

c.1343T>A

1 paper

NM_005228.5

p.L448_L450delFs

c.1344_1350del7

1 paper

NM_005228.5

p.S447Y

c.1340C>A

3 papers

NM_005228.5

p.S447F

c.1340C>T

1 paper

NM_005228.5

p.R451G

c.1351C>G

38 papers

NM_005228.5

p.R451C

c.1351C>T

1 paper

NM_005228.5

p.S447P

c.1339T>C

8 papers

NM_005228.5

p.R451H

c.1352G>A

3 papers

NM_005228.5

p.T446K

c.1337C>A

2 papers

NM_005228.5

p.T446I

c.1337C>T