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.L798_E804del0

c.2394_2411del18

Surrounding Variants

12 papers

NM_005228.5

p.L798H

c.2393T>A

1 paper

NM_005228.5

p.L798P

c.2393T>C

24 papers

NM_005228.5

p.L798I

c.2392C>A

1 paper

NM_005228.5

p.L798V

c.2392C>G

8 papers

NM_005228.5

p.L798F

c.2392C>T

79 papers

NM_005228.5

p.C797*

c.2391C>A

1 paper

NM_005228.5

p.L799M

c.2395C>A

12 papers

NM_005228.5

p.C797Y

c.2390G>A

1062 papers

NM_005228.5

p.C797S

c.2390G>C

2 papers

NM_005228.5

p.C797F

c.2390G>T

2 papers

NM_005228.5

p.C797delins

c.2390_2391delinsCT

3 papers

NM_005228.5

p.L799Q

c.2396T>A