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

17 papers

NM_005228.5

p.D855G

c.2564A>G

Surrounding Variants

1 paper

NM_005228.5

p.F856_G857insFs

c.2568_2569insT

5 papers

NM_005228.5

p.D855A

c.2564A>C

1 paper

NM_005228.5

p.D855V

c.2564A>T

1 paper

NM_005228.5

p.F856delFs

c.2568delT

11 papers

NM_005228.5

p.D855N

c.2563G>A

3 papers

NM_005228.5

p.D855H

c.2563G>C

2 papers

NM_005228.5

p.D855Y

c.2563G>T

1 paper

NM_005228.5

p.D855E

c.2565T>A

1 paper

NM_005228.5

p.D855D

c.2565T>C

2 papers

NM_005228.5

p.D855E

c.2565T>G

1 paper

NM_005228.5

p.T854_D855insFs

c.2562_2563insT

17 papers

NM_005228.5

p.F856L

c.2566T>C