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.P576P

c.1728A>T

Surrounding Variants

1 paper

NM_005228.5

p.P576L

c.1727C>T

1 paper

NM_005228.5

p.D577N

c.1729G>A

1 paper

NM_005228.5

p.N578_C591ins4

c.1732_1773dup42

1 paper

NM_005228.5

p.D577G

c.1730A>G

1 paper

NM_005228.5

p.N578_C579del1

c.1733_1735delACT

3 papers

NM_005228.5

p.G575E

c.1724G>A

1 paper

NM_005228.5

p.N578T

c.1733A>C

1 paper

NM_005228.5

p.C579_I580del2

c.1735_1739del6

2 papers

NM_005228.5

p.G575R

c.1723G>A

2 papers

NM_005228.5

p.G575R

c.1723G>C

1 paper

NM_005228.5

p.C579del1

c.1735_1737delTGT

1 paper

NM_005228.5

p.R574_G575Splc

c.1723-1G>C