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

2 papers

NM_005228.5

p.N623K

c.1869C>A

Surrounding Variants

2 papers

NM_005228.5

p.N623K

c.1869C>G

1 paper

NM_005228.5

p.N623S

c.1868A>G

2 papers

NM_005228.5

p.C624S

c.1870T>A

2 papers

NM_005228.5

p.C624R

c.1870T>C

1 paper

NM_005228.5

p.N623H

c.1867A>C

1 paper

NM_005228.5

p.N623Y

c.1867A>T

4 papers

NM_005228.5

p.C624Y

c.1871G>A

2 papers

NM_005228.5

p.C624S

c.1871G>C

12 papers

NM_005228.5

p.C624F

c.1871G>T

2 papers

NM_005228.5

p.C624W

c.1872C>G

2 papers

NM_005228.5

p.T625A

c.1873A>G

1 paper

NM_005228.5

p.T625S

c.1873A>T