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

8 papers

NM_005228.5

p.P694L

c.2081C>T

Surrounding Variants

1 paper

NM_005228.5

p.P694insFs

c.2080_2081insA

1 paper

NM_005228.5

p.P694A

c.2080C>G

9 papers

NM_005228.5

p.P694S

c.2080C>T

1 paper

NM_005228.5

p.S695R

c.2083A>C

2 papers

NM_005228.5

p.S695G

c.2083A>G

1 paper

NM_005228.5

p.P694delFs

c.2080delC

7 papers

NM_005228.5

p.S695N

c.2084G>A

2 papers

NM_005228.5

p.S695I

c.2084G>T

3 papers

NM_005228.5

p.T693A

c.2077A>G

1 paper

NM_005228.5

p.S695R

c.2085T>A

1 paper

NM_005228.5

p.S695R

c.2085T>G

3 papers

NM_005228.5

p.G696R

c.2086G>A