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.M268I

c.804G>C

Surrounding Variants

1 paper

NM_005228.5

p.M268I

c.804G>A

1 paper

NM_005228.5

p.M268I

c.804G>T

1 paper

NM_005228.5

p.L269F

c.805C>T

1 paper

NM_005228.5

p.M268V

c.802A>G

1 paper

NM_005228.5

p.L269P

c.806T>C

2 papers

NM_005228.5

p.L267L

c.801C>T

1 paper

NM_005228.5

p.Y270H

c.808T>C

2 papers

NM_005228.5

p.Y270D

c.808T>G

1 paper

NM_005228.5

p.Y270insFs

c.810dupC

12 papers

NM_005228.5

p.Y270C

c.809A>G

2 papers

NM_005228.5

p.L267F

c.799C>T

1 paper

NM_005228.5

p.L267fs

c.799_800fs