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

41 papers

NM_005228.5

p.V742A

c.2225T>C

Surrounding Variants

1 paper

NM_005228.5

p.V742G

c.2225T>G

2 papers

NM_005228.5

p.V742V

c.2226C>T

28 papers

NM_005228.5

p.V742I

c.2224G>A

1 paper

NM_005228.5

p.V742L

c.2224G>C

4 papers

NM_005228.5

p.V742F

c.2224G>T

1 paper

NM_005228.5

p.P741P

c.2223C>A

5 papers

NM_005228.5

p.P741P

c.2223C>T

23 papers

NM_005228.5

p.A743T

c.2227G>A

4 papers

NM_005228.5

p.A743P

c.2227G>C

9 papers

NM_005228.5

p.A743S

c.2227G>T

3 papers

NM_005228.5

p.P741H

c.2222C>A

4 papers

NM_005228.5

p.A743G

c.2228C>G