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.Q40delFs

c.120delG

Surrounding Variants

1 paper

NM_005228.5

p.Q40L

c.119A>T

1 paper

NM_005228.5

p.Q40K

c.118C>A

1 paper

NM_005228.5

p.Q40E

c.118C>G

5 papers

NM_005228.5

p.Q40*

c.118C>T

1 paper

NM_005228.5

p.Q40Q

c.120G>A

1 paper

NM_005228.5

p.L41delFs

c.122delT

1 paper

NM_005228.5

p.T39T

c.117G>A

1 paper

NM_005228.5

p.T39T

c.117G>T

1 paper

NM_005228.5

p.L41L

c.121T>C

1 paper

NM_005228.5

p.L41V

c.121T>G

1 paper

NM_005228.5

p.T39R

c.116C>G

2 papers

NM_005228.5

p.T39M

c.116C>T