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.E102G

c.305A>G

Surrounding Variants

2 papers

NM_005228.5

p.E102A

c.305A>C

1 paper

NM_005228.5

p.E102_N103insG

c.304_308ins3

1 paper

NM_005228.5

p.N103ins5

c.307_308ins15

1 paper

NM_005228.5

p.N103fs

c.307_308fs

1 paper

NM_005228.5

p.L101F

c.303G>C

3 papers

NM_005228.5

p.L101F

c.303G>T

1 paper

NM_005228.5

p.E102_I106delFs

c.304_317del14

1 paper

NM_005228.5

p.L104insFs

c.310dupC

2 papers

NM_005228.5

p.N103S

c.308A>G

2 papers

NM_005228.5

p.N103I

c.308A>T

1 paper

NM_005228.5

p.L104delFs

c.310delC

1 paper

NM_005228.5

p.L101*

c.302T>A