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

2 papers

NM_005228.5

p.E697D

c.2091A>C

Surrounding Variants

2 papers

NM_005228.5

p.E697D

c.2091A>T

1 paper

NM_005228.5

p.E697A

c.2090A>C

1 paper

NM_005228.5

p.E697G

c.2090A>G

15 papers

NM_005228.5

p.A698T

c.2092G>A

3 papers

NM_005228.5

p.A698S

c.2092G>T

1 paper

NM_005228.5

p.A698D

c.2093C>A

1 paper

NM_005228.5

p.A698G

c.2093C>G

4 papers

NM_005228.5

p.E697K

c.2089G>A

1 paper

NM_005228.5

p.E697*

c.2089G>T

1 paper

NM_005228.5

p.P699delFs

c.2097delC

1 paper

NM_005228.5

p.P699A

c.2095C>G

16 papers

NM_005228.5

p.P699S

c.2095C>T