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.K754Fs

c.2260delinsCAAGACFs

Surrounding Variants

2 papers

NM_005228.5

p.A755_E758ins1

c.2263_2274dup12

1 paper

NM_005228.5

p.K754Fs

c.2260delinsAACFs

8 papers

NM_005228.5

p.K754Q

c.2260A>C

1 paper

NM_005228.5

p.K754Fs

c.2260delinsCAAGAGFs

58 papers

NM_005228.5

p.K754E

c.2260A>G

2 papers

NM_005228.5

p.K754*

c.2260A>T

1 paper

NM_005228.5

p.K754fs

c.2260_2261fs

4 papers

NM_005228.5

p.K754T

c.2261A>C

12 papers

NM_005228.5

p.K754R

c.2261A>G

19 papers

NM_005228.5

p.K754I

c.2261A>T

3 papers

NM_005228.5

p.P753P

c.2259G>A

1 paper

NM_005228.5

p.K754insFs

c.2262dupA