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.R138S

c.414A>T

Surrounding Variants

4 papers

NM_005228.5

p.N139D

c.415A>G

1 paper

NM_005228.5

p.R138I

c.413G>T

1 paper

NM_005228.5

p.R138fs

c.412_413fs

2 papers

NM_005228.5

p.R138G

c.412A>G

2 papers

NM_005228.5

p.N139S

c.416A>G

1 paper

NM_005228.5

p.R138*

c.412A>T

1 paper

NM_005228.5

p.N139I

c.416A>T

4 papers

NM_005228.5

p.M137I

c.411G>A

4 papers

NM_005228.5

p.M137I

c.411G>C

4 papers

NM_005228.5

p.M137I

c.411G>T

2 papers

NM_005228.5

p.M137K

c.410T>A

2 papers

NM_005228.5

p.M137T

c.410T>C