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.D761E

c.2283T>A

Surrounding Variants

1 paper

NM_005228.5

p.D761E

c.2283T>G

1 paper

NM_005228.5

p.D761A

c.2282A>C

6 papers

NM_005228.5

p.D761G

c.2282A>G

1 paper

NM_005228.5

p.D761V

c.2282A>T

1 paper

NM_005228.5

p.D761_E762Splc

c.2283+1G>A

69 papers

NM_005228.5

p.D761N

c.2281G>A

3 papers

NM_005228.5

p.D761H

c.2281G>C

255 papers

NM_005228.5

p.D761Y

c.2281G>T

1 paper

NM_005228.5

p.L760L

c.2280C>T

6 papers

NM_005228.5

p.L760P

c.2279T>C

3 papers

NM_005228.5

p.L760R

c.2279T>G

1 paper

NM_005228.5

p.L760I

c.2278C>A