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

2 papers

NM_005228.5

p.I91L

c.271A>C

Surrounding Variants

8 papers

NM_005228.5

p.I91V

c.271A>G

1 paper

NM_005228.5

p.L90L

c.270C>G

5 papers

NM_005228.5

p.I91I

c.273T>A

2 papers

NM_005228.5

p.L90H

c.269T>A

2 papers

NM_005228.5

p.L90P

c.269T>C

1 paper

NM_005228.5

p.I91I

c.273T>C

1 paper

NM_005228.5

p.L90delFs

c.270delC

1 paper

NM_005228.5

p.L90I

c.268C>A

1 paper

NM_005228.5

p.L90V

c.268C>G

6 papers

NM_005228.5

p.L90F

c.268C>T

1 paper

NM_005228.5

p.A92T

c.274G>A

1 paper

NM_005228.5

p.A92S

c.274G>T