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.E711G

c.2132A>G

Surrounding Variants

1 paper

NM_005228.5

p.E711A

c.2132A>C

5 papers

NM_005228.5

p.E711V

c.2132A>T

2 papers

NM_005228.5

p.E711D

c.2133A>T

1 paper

NM_005228.5

p.F712_T725del14

c.2134_2174del42

13 papers

NM_005228.5

p.E711K

c.2131G>A

1 paper

NM_005228.5

p.E711Q

c.2131G>C

2 papers

NM_005228.5

p.E711*

c.2131G>T

19 papers

NM_005228.5

p.F712L

c.2134T>C

2 papers

NM_005228.5

p.T710N

c.2129C>A

3 papers

NM_005228.5

p.T710S

c.2129C>G

4 papers

NM_005228.5

p.T710I

c.2129C>T

17 papers

NM_005228.5

p.F712S

c.2135T>C