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.D800D

c.2400C>T

Surrounding Variants

1 paper

NM_005228.5

p.Y801_N816insFs

c.2401_2447dup47

1 paper

NM_005228.5

p.D800A

c.2399A>C

7 papers

NM_005228.5

p.D800G

c.2399A>G

1 paper

NM_005228.5

p.Y801N

c.2401T>A

7 papers

NM_005228.5

p.Y801H

c.2401T>C

7 papers

NM_005228.5

p.Y801C

c.2402A>G

1 paper

NM_005228.5

p.Y801F

c.2402A>T

5 papers

NM_005228.5

p.D800N

c.2398G>A

1 paper

NM_005228.5

p.D800insFs

c.2399_2400insA

1 paper

NM_005228.5

p.D800Y

c.2398G>T

1 paper

NM_005228.5

p.D800fs

c.2398_2399fs

1 paper

NM_005228.5

p.L799L

c.2397G>C