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.P100P

c.300T>G

Surrounding Variants

2 papers

NM_005228.5

p.P100P

c.300T>A

1 paper

NM_005228.5

p.P100P

c.300T>C

2 papers

NM_005228.5

p.P100H

c.299C>A

1 paper

NM_005228.5

p.L101insFs

c.302dupT

1 paper

NM_005228.5

p.P100L

c.299C>T

1 paper

NM_005228.5

p.L101M

c.301T>A

1 paper

NM_005228.5

p.L101fs

c.301_302fs

1 paper

NM_005228.5

p.L101_E102ins4

c.301_305ins12

1 paper

NM_005228.5

p.L101fs

c.301_302fs

3 papers

NM_005228.5

p.P100T

c.298C>A

4 papers

NM_005228.5

p.P100S

c.298C>T

1 paper

NM_005228.5

p.L101*

c.302T>A