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

1 paper

NM_005228.5

p.V717L

c.2149G>T

Surrounding Variants

2 papers

NM_005228.5

p.V717M

c.2149G>A

1 paper

NM_005228.5

p.V717L

c.2149G>C

1 paper

NM_005228.5

p.V717insFs

c.2149_2150insT

4 papers

NM_005228.5

p.K716N

c.2148A>C

4 papers

NM_005228.5

p.K716N

c.2148A>T

2 papers

NM_005228.5

p.V717E

c.2150T>A

7 papers

NM_005228.5

p.V717A

c.2150T>C

4 papers

NM_005228.5

p.V717G

c.2150T>G

1 paper

NM_005228.5

p.K716T

c.2147A>C

6 papers

NM_005228.5

p.K716R

c.2147A>G

1 paper

NM_005228.5

p.K716I

c.2147A>T

2 papers

NM_005228.5

p.K716Q

c.2146A>C