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.K728_G729Splc

c.2184+4A>G

Surrounding Variants

1 paper

NM_005228.5

p.K728N

c.2184G>C

1 paper

NM_005228.5

p.K728N

c.2184G>T

3 papers

NM_005228.5

p.K728T

c.2183A>C

3 papers

NM_005228.5

p.K728R

c.2183A>G

3 papers

NM_005228.5

p.K728M

c.2183A>T

1 paper

NM_005228.5

p.K728Q

c.2182A>C

4 papers

NM_005228.5

p.K728E

c.2182A>G

3 papers

NM_005228.5

p.K728*

c.2182A>T

1 paper

NM_005228.5

p.K728del1

c.2182_2183delAAG

1 paper

NM_005228.5

p.Y727S

c.2180A>C

13 papers

NM_005228.5

p.Y727C

c.2180A>G

2 papers

NM_005228.5

p.Y727N

c.2179T>A