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.D770_N771ins1

c.2310_2311insTAC

Surrounding Variants

18 papers

NM_005228.5

p.D770N

c.2308G>A

3 papers

NM_005228.5

p.D770delins

c.2308delinsAACAACA

1 paper

NM_005228.5

p.D770delins

c.2308delinsAACAACCCCC

1 paper

NM_005228.5

p.D770H

c.2308G>C

18 papers

NM_005228.5

p.N771ins0

c.2311_2313dupAAC

2 papers

NM_005228.5

p.D770_P772ins1

c.2309_2314dup6

1 paper

NM_005228.5

p.P772_H773ins3

c.2316_2317ins9

48 papers

NM_005228.5

p.H773_V774ins3

c.2319_2320ins9

1 paper

NM_005228.5

p.H773_V774ins4

c.2319_2320ins12

3 papers

NM_005228.5

p.P772_H773ins3

c.2316_2317ins9

1 paper

NM_005228.5

p.P772ins3

c.2315_2316ins9

2 papers

NM_005228.5

p.D770_N771ins1

c.2310_2311insCAC