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

98 papers

NM_005228.5

p.V769_D770ins3

c.2307_2308ins9

Surrounding Variants

1 paper

NM_005228.5

p.M766insFs

c.2296_2297insC

1 paper

NM_005228.5

p.M766fs

c.2296_2297fs

4 papers

NM_005228.5

p.S768ins3

c.2302_2303ins9

5 papers

NM_005228.5

p.S768ins3

c.2303_2304ins9

3 papers

NM_005228.5

p.M766L

c.2296A>C

4 papers

NM_005228.5

p.M766V

c.2296A>G

3 papers

NM_005228.5

p.M766L

c.2296A>T

1 paper

NM_005228.5

p.A767_D770del0

c.2300_2308del9

12 papers

NM_005228.5

p.M766T

c.2297T>C

1 paper

NM_005228.5

p.A767delFs

c.2299delG

5 papers

NM_005228.5

p.M766I

c.2298G>A

6 papers

NM_005228.5

p.M766I

c.2298G>C