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.S768insFs

c.2302_2303ins4

Surrounding Variants

1 paper

NM_005228.5

p.S768ins5

c.2302_2303ins15

2 papers

NM_005228.5

p.V769_D770ins2

c.2307_2308ins6

1 paper

NM_005228.5

p.V769ins2

c.2306_2307ins6

3 papers

NM_005228.5

p.S768ins3

c.2302_2303ins9

7 papers

NM_005228.5

p.S768R

c.2302A>C

2 papers

NM_005228.5

p.S768G

c.2302A>G

10 papers

NM_005228.5

p.S768C

c.2302A>T

1 paper

NM_005228.5

p.S768_V769delins

c.2302_2305delinsCCCT

1 paper

NM_005228.5

p.S768_V769delins

c.2302_2305delinsCCGC

1 paper

NM_005228.5

p.A767_S768ins2

c.2301_2302ins6

1 paper

NM_005228.5

p.S768_V769ins0

c.2302_2307dup6

3 papers

NM_005228.5

p.D770ins3

c.2308_2309ins9