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

1062 papers

NM_005228.5

p.C797S

c.2390G>C

Surrounding Variants

12 papers

NM_005228.5

p.C797Y

c.2390G>A

2 papers

NM_005228.5

p.C797F

c.2390G>T

2 papers

NM_005228.5

p.C797delins

c.2390_2391delinsCT

79 papers

NM_005228.5

p.C797*

c.2391C>A

1062 papers

NM_005228.5

p.C797S

c.2389T>A

2 papers

NM_005228.5

p.C797R

c.2389T>C

56 papers

NM_005228.5

p.C797G

c.2389T>G

1 paper

NM_005228.5

p.C797_L798insC

c.2389_2393ins3

1 paper

NM_005228.5

p.C797delins

c.2389_2390delinsAA

1 paper

NM_005228.5

p.C797delins

c.2389_2391delinsAGT

1 paper

NM_005228.5

p.C797delins

c.2389_2391delinsGCT

24 papers

NM_005228.5

p.L798I

c.2392C>A