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.P622A

c.1864C>G

Surrounding Variants

3 papers

NM_005228.5

p.P622S

c.1864C>T

3 papers

NM_005228.5

p.P622L

c.1865C>T

1 paper

NM_005228.5

p.H621R

c.1862A>G

1 paper

NM_005228.5

p.H621L

c.1862A>T

1 paper

NM_005228.5

p.N623H

c.1867A>C

1 paper

NM_005228.5

p.N623Y

c.1867A>T

1 paper

NM_005228.5

p.H621N

c.1861C>A

1 paper

NM_005228.5

p.N623S

c.1868A>G

13 papers

NM_005228.5

p.C620W

c.1860C>G

2 papers

NM_005228.5

p.C620_H621delins

c.1860_1861delinsAA

2 papers

NM_005228.5

p.N623K

c.1869C>A

2 papers

NM_005228.5

p.N623K

c.1869C>G