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.L542P

c.1625T>C

Surrounding Variants

1 paper

NM_005228.5

p.L542R

c.1625T>G

2 papers

NM_005228.5

p.E543del1

c.1627_1628delGAG

2 papers

NM_005228.5

p.E543K

c.1627G>A

3 papers

NM_005228.5

p.L541I

c.1621C>A

2 papers

NM_005228.5

p.L541F

c.1621C>T

2 papers

NM_005228.5

p.E543E

c.1629G>A

3 papers

NM_005228.5

p.N540K

c.1620C>A

2 papers

NM_005228.5

p.N540K

c.1620C>G

1 paper

NM_005228.5

p.G544C

c.1630G>T

1 paper

NM_005228.5

p.G544fs

c.1630_1631fs

1 paper

NM_005228.5

p.N540T

c.1619A>C

2 papers

NM_005228.5

p.N540S

c.1619A>G