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.L682L

c.2046G>A

Surrounding Variants

1 paper

NM_005228.5

p.L682L

c.2046G>C

1 paper

NM_005228.5

p.L683M

c.2047C>A

4 papers

NM_005228.5

p.L683L

c.2047C>T

1 paper

NM_005228.5

p.L682R

c.2045T>G

1 paper

NM_005228.5

p.L682M

c.2044C>A

1 paper

NM_005228.5

p.L682insFs

c.2045dupT

1 paper

NM_005228.5

p.Q684*

c.2050C>T

1 paper

NM_005228.5

p.R681M

c.2042G>T

3 papers

NM_005228.5

p.Q684R

c.2051A>G

1 paper

NM_005228.5

p.R681G

c.2041A>G

1 paper

NM_005228.5

p.Q684L

c.2051A>T

1 paper

NM_005228.5

p.R680R

c.2040G>A