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.K867K

c.2601A>G

Surrounding Variants

1 paper

NM_005228.5

p.K867_E868insFs

c.2601_2602insC

3 papers

NM_005228.5

p.K867N

c.2601A>C

3 papers

NM_005228.5

p.K867N

c.2601A>T

2 papers

NM_005228.5

p.K867T

c.2600A>C

1 paper

NM_005228.5

p.K867R

c.2600A>G

2 papers

NM_005228.5

p.K867I

c.2600A>T

9 papers

NM_005228.5

p.E868K

c.2602G>A

3 papers

NM_005228.5

p.E868Q

c.2602G>C

19 papers

NM_005228.5

p.E868G

c.2603A>G

2 papers

NM_005228.5

p.K867E

c.2599A>G

4 papers

NM_005228.5

p.E868V

c.2603A>T

1 paper

NM_005228.5

p.E868_Y869insFs

c.2604_2605insC