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

38 papers

NM_005228.5

p.S752F

c.2255C>T

Surrounding Variants

18 papers

NM_005228.5

p.S752Y

c.2255C>A

2 papers

NM_005228.5

p.S752insFs

c.2255_2256insT

3 papers

NM_005228.5

p.S752C

c.2255C>G

2 papers

NM_005228.5

p.S752delFs

c.2256delT

1 paper

NM_005228.5

p.S752_N756delFs

c.2256_2266del11

5 papers

NM_005228.5

p.S752T

c.2254T>A

12 papers

NM_005228.5

p.S752P

c.2254T>C

2 papers

NM_005228.5

p.S752A

c.2254T>G

1 paper

NM_005228.5

p.S752delins

c.2256delinsG

1 paper

NM_005228.5

p.S752Fs

c.2256delinsTAFs

1 paper

NM_005228.5

p.S752Fs

c.2256delinsTCFs

1 paper

NM_005228.5

p.S752Fs

c.2256delinsTGFs