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.L135L

c.405G>A

Surrounding Variants

1 paper

NM_005228.5

p.L135L

c.405G>C

1 paper

NM_005228.5

p.L135L

c.405G>T

3 papers

NM_005228.5

p.P136T

c.406C>A

1 paper

NM_005228.5

p.P136A

c.406C>G

1 paper

NM_005228.5

p.P136S

c.406C>T

1 paper

NM_005228.5

p.L135R

c.404T>G

1 paper

NM_005228.5

p.L135delFs

c.405delG

1 paper

NM_005228.5

p.P136H

c.407C>A

1 paper

NM_005228.5

p.L135insFs

c.403_404ins4

3 papers

NM_005228.5

p.P136L

c.407C>T

1 paper

NM_005228.5

p.L135L

c.403C>T

1 paper

NM_005228.5

p.P136_M137del2

c.406_410del6