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

172 papers

NM_005228.5

p.R521K

c.1562G>A

Surrounding Variants

3 papers

NM_005228.5

p.R521T

c.1562G>C

2 papers

NM_005228.5

p.R521M

c.1562G>T

2 papers

NM_005228.5

p.R521G

c.1561A>G

1 paper

NM_005228.5

p.R521S

c.1563G>C

1 paper

NM_005228.5

p.R521S

c.1563G>T

1 paper

NM_005228.5

p.D522delFs

c.1564_1565delGA

1 paper

NM_005228.5

p.R521delFs

c.1561_1562delAG

1 paper

NM_005228.5

p.D522Y

c.1564G>T

1 paper

NM_005228.5

p.P520R

c.1559C>G

2 papers

NM_005228.5

p.P520L

c.1559C>T

1 paper

NM_005228.5

p.P520T

c.1558C>A

1 paper

NM_005228.5

p.D522E

c.1566C>A