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.T68_Y69del2

c.202_206del6

Surrounding Variants

1 paper

NM_005228.5

p.I67T

c.200T>C

1 paper

NM_005228.5

p.I67M

c.201T>G

1 paper

NM_005228.5

p.I67_T68insFs

c.201_202insAG

2 papers

NM_005228.5

p.T68ins1

c.202_203insACC

2 papers

NM_005228.5

p.T68insFs

c.203_204insC

1 paper

NM_005228.5

p.T68fs

c.202_203fs

1 paper

NM_005228.5

p.E66_I67ins5

c.198_199ins15

1 paper

NM_005228.5

p.T68P

c.202A>C

1 paper

NM_005228.5

p.E66E

c.198A>G

1 paper

NM_005228.5

p.T68A

c.202A>G

2 papers

NM_005228.5

p.T68S

c.202A>T

1 paper

NM_005228.5

p.I67_Y69del0

c.199_207del9