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

25 papers

NM_005228.5

p.R108G

c.322A>G

Surrounding Variants

2 papers

NM_005228.5

p.R108*

c.322A>T

182 papers

NM_005228.5

p.R108K

c.323G>A

1 paper

NM_005228.5

p.R108T

c.323G>C

2 papers

NM_005228.5

p.R108I

c.323G>T

5 papers

NM_005228.5

p.R108S

c.324A>C

5 papers

NM_005228.5

p.R108S

c.324A>T

1 paper

NM_005228.5

p.I107N

c.320T>A

1 paper

NM_005228.5

p.I107T

c.320T>C

1 paper

NM_005228.5

p.I107S

c.320T>G

3 papers

NM_005228.5

p.I107V

c.319A>G

1 paper

NM_005228.5

p.I107F

c.319A>T

2 papers

NM_005228.5

p.G109E

c.326G>A