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.T34_S35insFs

c.102_103insG

Surrounding Variants

1 paper

NM_005228.5

p.T34insFs

c.101_102ins4

2 papers

NM_005228.5

p.T34R

c.101C>G

4 papers

NM_005228.5

p.T34M

c.101C>T

1 paper

NM_005228.5

p.T34A

c.100A>G

1 paper

NM_005228.5

p.T34T

c.102G>A

1 paper

NM_005228.5

p.S35_N36ins6

c.103_107ins18

1 paper

NM_005228.5

p.S35G

c.103A>G

1 paper

NM_005228.5

p.G33_T34insFs

c.99_100insAA

1 paper

NM_005228.5

p.G33G

c.99C>T

2 papers

NM_005228.5

p.S35N

c.104G>A

1 paper

NM_005228.5

p.G33D

c.98G>A

1 paper

NM_005228.5

p.G33A

c.98G>C