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.A10_L11ins1

c.30_31insGGA

Surrounding Variants

2 papers

NM_005228.5

p.A10A

c.30G>A

2 papers

NM_005228.5

p.A10A

c.30G>T

2 papers

NM_005228.5

p.L11I

c.31C>A

1 paper

NM_005228.5

p.A10E

c.29C>A

1 paper

NM_005228.5

p.L11ins1

c.31_32insGAG

3 papers

NM_005228.5

p.A10G

c.29C>G

1 paper

NM_005228.5

p.L11V

c.31C>G

1 paper

NM_005228.5

p.A10V

c.29C>T

1 paper

NM_005228.5

p.L11F

c.31C>T

2 papers

NM_005228.5

p.A10delins

c.29_30delinsGA

1 paper

NM_005228.5

p.L11fs

c.31_32fs

3 papers

NM_005228.5

p.A10T

c.28G>A