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.T502_G503insYA

c.1504_1508ins6

Surrounding Variants

1 paper

NM_005228.5

p.T502ins3

c.1505_1506ins9

1 paper

NM_005228.5

p.T502P

c.1504A>C

1 paper

NM_005228.5

p.T502A

c.1504A>G

1 paper

NM_005228.5

p.A501A

c.1503C>T

1 paper

NM_005228.5

p.T502_G503ins3

c.1506_1507ins9

1 paper

NM_005228.5

p.T502_G503ins0

c.1504_1509dup6

3 papers

NM_005228.5

p.A501T

c.1501G>A

3 papers

NM_005228.5

p.G503S

c.1507G>A

1 paper

NM_005228.5

p.G503ins2

c.1507_1508ins6

1 paper

NM_005228.5

p.G503ins1

c.1507_1508insGTT

2 papers

NM_005228.5

p.G503C

c.1507G>T

1 paper

NM_005228.5

p.Q504ins4

c.1510_1511ins12