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.Q435Q

c.1305G>A

Surrounding Variants

2 papers

NM_005228.5

p.F436L

c.1306T>C

1 paper

NM_005228.5

p.Q435E

c.1303C>G

1 paper

NM_005228.5

p.Q435*

c.1303C>T

2 papers

NM_005228.5

p.F436L

c.1308T>A

2 papers

NM_005228.5

p.F436L

c.1308T>G

1 paper

NM_005228.5

p.G434D

c.1301G>A

1 paper

NM_005228.5

p.G434A

c.1301G>C

1 paper

NM_005228.5

p.G434_Q435del1

c.1302_1304delTCA

1 paper

NM_005228.5

p.S437fs

c.1309_1310fs

4 papers

NM_005228.5

p.S437Y

c.1310C>A

1 paper

NM_005228.5

p.S437C

c.1310C>G

1 paper

NM_005228.5

p.S437F

c.1310C>T