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

19 papers

NM_005228.5

p.F712L

c.2134T>C

Surrounding Variants

2 papers

NM_005228.5

p.E711D

c.2133A>T

1 paper

NM_005228.5

p.F712_T725del14

c.2134_2174del42

17 papers

NM_005228.5

p.F712S

c.2135T>C

1 paper

NM_005228.5

p.E711A

c.2132A>C

1 paper

NM_005228.5

p.E711G

c.2132A>G

5 papers

NM_005228.5

p.E711V

c.2132A>T

18 papers

NM_005228.5

p.F712L

c.2136C>A

2 papers

NM_005228.5

p.F712_K713insFs

c.2136_2137insA

19 papers

NM_005228.5

p.F712L

c.2136C>G

2 papers

NM_005228.5

p.K714delFs

c.2141delA

1 paper

NM_005228.5

p.K713Q

c.2137A>C

2 papers

NM_005228.5

p.K713E

c.2137A>G