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.A13A

c.39G>T

Surrounding Variants

3 papers

NM_005228.5

p.A13A

c.39G>A

1 paper

NM_005228.5

p.A13A

c.39G>C

1 paper

NM_005228.5

p.A13_L14ins1

c.39_40insGGC

1 paper

NM_005228.5

p.L14_C19del6

c.40_56del18

1 paper

NM_005228.5

p.A13delins

c.38_39delinsAG

1 paper

NM_005228.5

p.L14insFs

c.40_41ins16

1 paper

NM_005228.5

p.L14insFs

c.41dupT

1 paper

NM_005228.5

p.A13G

c.38C>G

1 paper

NM_005228.5

p.L14V

c.40C>G

4 papers

NM_005228.5

p.A13V

c.38C>T

2 papers

NM_005228.5

p.L14L

c.40C>T

1 paper

NM_005228.5

p.A13delins

c.38_39delinsAA