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

3 papers

NM_005228.5

p.I759F

c.2275A>T

Surrounding Variants

2 papers

NM_005228.5

p.I759L

c.2275A>C

2 papers

NM_005228.5

p.I759V

c.2275A>G

1 paper

NM_005228.5

p.L760del1

c.2278_2279delCTC

7 papers

NM_005228.5

p.E758D

c.2274A>C

1 paper

NM_005228.5

p.E758E

c.2274A>G

6 papers

NM_005228.5

p.E758D

c.2274A>T

55 papers

NM_005228.5

p.I759del1

c.2275_2276delATC

12 papers

NM_005228.5

p.I759N

c.2276T>A

2 papers

NM_005228.5

p.I759T

c.2276T>C

1 paper

NM_005228.5

p.I759Fs

c.2276delinsCCGAAFs

6 papers

NM_005228.5

p.I759S

c.2276T>G

1 paper

NM_005228.5

p.E758insFs

c.2273_2274insCC