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

3 papers

NM_005228.5

p.T259A

c.775A>G

Surrounding Variants

1 paper

NM_005228.5

p.A258_T259ins1

c.774_775insTCG

7 papers

NM_005228.5

p.T259M

c.776C>T

1 paper

NM_005228.5

p.A258V

c.773C>T

1 paper

NM_005228.5

p.T259T

c.777G>A

1 paper

NM_005228.5

p.A258insFs

c.774dupC

1 paper

NM_005228.5

p.A258insFs

c.773_774dupCC

1 paper

NM_005228.5

p.C260insFs

c.779dupG

2 papers

NM_005228.5

p.A258insFs

c.772dupG

2 papers

NM_005228.5

p.E257D

c.771A>C

2 papers

NM_005228.5

p.E257D

c.771A>T

2 papers

NM_005228.5

p.C260Y

c.779G>A

20 papers

NM_005228.5

p.C260S

c.779G>C