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

4 papers

NM_005228.5

p.L658Q

c.1973T>A

Surrounding Variants

1 paper

NM_005228.5

p.L658P

c.1973T>C

1 paper

NM_005228.5

p.L658M

c.1972C>A

1 paper

NM_005228.5

p.L658L

c.1974G>A

2 papers

NM_005228.5

p.V659M

c.1975G>A

3 papers

NM_005228.5

p.V659L

c.1975G>C

3 papers

NM_005228.5

p.V659L

c.1975G>T

15 papers

NM_005228.5

p.V659E

c.1976T>A

3 papers

NM_005228.5

p.V659A

c.1976T>C

2 papers

NM_005228.5

p.V659G

c.1976T>G

1 paper

NM_005228.5

p.L657R

c.1970T>G

1 paper

NM_005228.5

p.L657L

c.1969C>T

1 paper

NM_005228.5

p.L658_V659del2

c.1972_1976del6