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.M766I

c.2298G>C

Surrounding Variants

5 papers

NM_005228.5

p.M766I

c.2298G>A

1 paper

NM_005228.5

p.S768ins2

c.2302_2303ins6

1 paper

NM_005228.5

p.S768ins2

c.2302_2303ins6

5 papers

NM_005228.5

p.M766I

c.2298G>T

1 paper

NM_005228.5

p.A767del1

c.2299_2300delGCC

13 papers

NM_005228.5

p.A767T

c.2299G>A

1 paper

NM_005228.5

p.A767P

c.2299G>C

1 paper

NM_005228.5

p.V769ins3

c.2306_2307ins9

1 paper

NM_005228.5

p.A767ins5

c.2299_2300ins15

3 papers

NM_005228.5

p.V769_D770ins3

c.2307_2308ins9

3 papers

NM_005228.5

p.A767_S768ins3

c.2299_2303ins9

2 papers

NM_005228.5

p.A767S

c.2299G>T