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.F856S

c.2567T>C

Surrounding Variants

4 papers

NM_005228.5

p.F856Y

c.2567T>A

2 papers

NM_005228.5

p.F856C

c.2567T>G

17 papers

NM_005228.5

p.F856L

c.2568T>A

17 papers

NM_005228.5

p.F856L

c.2566T>C

17 papers

NM_005228.5

p.F856L

c.2568T>G

1 paper

NM_005228.5

p.F856fs

c.2566_2567fs

1 paper

NM_005228.5

p.G857delFs

c.2571delG

26 papers

NM_005228.5

p.G857R

c.2569G>A

24 papers

NM_005228.5

p.G857R

c.2569G>C

4 papers

NM_005228.5

p.G857W

c.2569G>T

1 paper

NM_005228.5

p.G857fs

c.2569_2570fs

1 paper

NM_005228.5

p.D855E

c.2565T>A