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

2 papers

NM_005228.5

p.Y764C

c.2291A>G

Surrounding Variants

1 paper

NM_005228.5

p.Y764ins4

c.2291_2292ins12

1 paper

NM_005228.5

p.Y764S

c.2291A>C

2 papers

NM_005228.5

p.Y764F

c.2291A>T

1 paper

NM_005228.5

p.Y764H

c.2290T>C

1 paper

NM_005228.5

p.Y764D

c.2290T>G

4 papers

NM_005228.5

p.Y764ins4

c.2290_2291ins12

1 paper

NM_005228.5

p.Y764insFs

c.2290_2291ins4

1 paper

NM_005228.5

p.Y764insFs

c.2290_2291ins11

1 paper

NM_005228.5

p.Y764insFs

c.2290_2291dupTA

2 papers

NM_005228.5

p.A763A

c.2289C>G

2 papers

NM_005228.5

p.A763A

c.2289C>T

46 papers

NM_005228.5

p.V765M

c.2293G>A