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.L104L

c.312G>A

Surrounding Variants

1 paper

NM_005228.5

p.Q105insFs

c.313dupC

1 paper

NM_005228.5

p.Q105K

c.313C>A

1 paper

NM_005228.5

p.Q105E

c.313C>G

2 papers

NM_005228.5

p.Q105*

c.313C>T

1 paper

NM_005228.5

p.Q105delFs

c.314delA

1 paper

NM_005228.5

p.Q105fs

c.313_314fs

2 papers

NM_005228.5

p.L104Q

c.311T>A

1 paper

NM_005228.5

p.Q105P

c.314A>C

1 paper

NM_005228.5

p.L104M

c.310C>A

1 paper

NM_005228.5

p.L104_Q105insC

c.310_314ins3

1 paper

NM_005228.5

p.L104L

c.310C>T

1 paper

NM_005228.5

p.L104delFs

c.311_312delTG