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.K806I

c.2417A>T

Surrounding Variants

5 papers

NM_005228.5

p.K806R

c.2417A>G

23 papers

NM_005228.5

p.K806E

c.2416A>G

1 paper

NM_005228.5

p.K806_Q812del0

c.2417_2434del18

2 papers

NM_005228.5

p.H805H

c.2415C>T

4 papers

NM_005228.5

p.D807N

c.2419G>A

5 papers

NM_005228.5

p.D807H

c.2419G>C

1 paper

NM_005228.5

p.D807insFs

c.2420_2421insA

1 paper

NM_005228.5

p.D807fs

c.2419_2420fs

1 paper

NM_005228.5

p.D807A

c.2420A>C

3 papers

NM_005228.5

p.H805R

c.2414A>G

1 paper

NM_005228.5

p.D807G

c.2420A>G

5 papers

NM_005228.5

p.H805L

c.2414A>T