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.I732T

c.2195T>C

Surrounding Variants

2 papers

NM_005228.5

p.I732V

c.2194A>G

3 papers

NM_005228.5

p.P733T

c.2197C>A

19 papers

NM_005228.5

p.P733S

c.2197C>T

31 papers

NM_005228.5

p.W731*

c.2193G>A

1 paper

NM_005228.5

p.W731C

c.2193G>C

1 paper

NM_005228.5

p.W731C

c.2193G>T

2 papers

NM_005228.5

p.P733Q

c.2198C>A

32 papers

NM_005228.5

p.P733L

c.2198C>T

31 papers

NM_005228.5

p.W731*

c.2192G>A

1 paper

NM_005228.5

p.W731S

c.2192G>C

4 papers

NM_005228.5

p.W731L

c.2192G>T

1 paper

NM_005228.5

p.P733P

c.2199A>G