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.L65W

c.194T>G

Surrounding Variants

1 paper

NM_005228.5

p.L65F

c.195G>C

1 paper

NM_005228.5

p.E66_I67insFs

c.196_199dup4

1 paper

NM_005228.5

p.L65M

c.193T>A

1 paper

NM_005228.5

p.L65V

c.193T>G

1 paper

NM_005228.5

p.L65fs

c.193_194fs

1 paper

NM_005228.5

p.E66K

c.196G>A

1 paper

NM_005228.5

p.I67insFs

c.199dupA

1 paper

NM_005228.5

p.E66_I67insG

c.196_200ins3

2 papers

NM_005228.5

p.E66*

c.196G>T

1 paper

NM_005228.5

p.L65_E66del2

c.193_197del6

5 papers

NM_005228.5

p.N64T

c.191A>C

1 paper

NM_005228.5

p.N64I

c.191A>T