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

46 papers

NM_005228.5

p.V765M

c.2293G>A

Surrounding Variants

9 papers

NM_005228.5

p.V765L

c.2293G>C

10 papers

NM_005228.5

p.V765L

c.2293G>T

32 papers

NM_005228.5

p.V765A

c.2294T>C

4 papers

NM_005228.5

p.V765G

c.2294T>G

1 paper

NM_005228.5

p.V765ins2

c.2294_2295ins6

1 paper

NM_005228.5

p.Y764ins4

c.2291_2292ins12

1 paper

NM_005228.5

p.Y764S

c.2291A>C

2 papers

NM_005228.5

p.Y764C

c.2291A>G

2 papers

NM_005228.5

p.Y764F

c.2291A>T

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