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

6 papers

NM_005228.5

p.C223Y

c.668G>A

Surrounding Variants

1 paper

NM_005228.5

p.C223*

c.669C>A

1 paper

NM_005228.5

p.C223W

c.669C>G

1 paper

NM_005228.5

p.R224_G225ins7

c.670_674ins21

3 papers

NM_005228.5

p.R224C

c.670C>T

7 papers

NM_005228.5

p.R222H

c.665G>A

1 paper

NM_005228.5

p.R224H

c.671G>A

8 papers

NM_005228.5

p.R222L

c.665G>T

1 paper

NM_005228.5

p.R224L

c.671G>T

76 papers

NM_005228.5

p.R222C

c.664C>T

1 paper

NM_005228.5

p.R224_G225insFs

c.672_673insA

1 paper

NM_005228.5

p.G225C

c.673G>T

7 papers

NM_005228.5

p.G225D

c.674G>A