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

1 paper

NM_005228.5

p.A613G

c.1838C>G

Surrounding Variants

2 papers

NM_005228.5

p.A613V

c.1838C>T

4 papers

NM_005228.5

p.A613A

c.1839C>T

3 papers

NM_005228.5

p.A613T

c.1837G>A

5 papers

NM_005228.5

p.G614S

c.1840G>A

1 paper

NM_005228.5

p.G614R

c.1840G>C

5 papers

NM_005228.5

p.G614D

c.1841G>A

1 paper

NM_005228.5

p.G614A

c.1841G>C

1 paper

NM_005228.5

p.D612N

c.1834G>A

1 paper

NM_005228.5

p.H615Y

c.1843C>T

1 paper

NM_005228.5

p.A611G

c.1832C>G

2 papers

NM_005228.5

p.A611V

c.1832C>T

5 papers

NM_005228.5

p.A611T

c.1831G>A