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.Q276R

c.827A>G

Surrounding Variants

3 papers

NM_005228.5

p.Q276L

c.827A>T

4 papers

NM_005228.5

p.Q276*

c.826C>T

3 papers

NM_005228.5

p.Q276H

c.828G>C

4 papers

NM_005228.5

p.Q276H

c.828G>T

1 paper

NM_005228.5

p.M277V

c.829A>G

4 papers

NM_005228.5

p.M277delins

c.829_830delinsGA

2 papers

NM_005228.5

p.Y275*

c.825C>A

2 papers

NM_005228.5

p.Y275*

c.825C>G

5 papers

NM_005228.5

p.Y275F

c.824A>T

4 papers

NM_005228.5

p.M277K

c.830T>A

1 paper

NM_005228.5

p.M277T

c.830T>C

1 paper

NM_005228.5

p.M277_D278delins

c.831_832delinsTT