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.L844P

c.2531T>C

Surrounding Variants

1 paper

NM_005228.5

p.L844Q

c.2531T>A

2 papers

NM_005228.5

p.L844M

c.2530C>A

1 paper

NM_005228.5

p.L844insFs

c.2531_2532insT

42 papers

NM_005228.5

p.L844V

c.2530C>G

1 paper

NM_005228.5

p.L844L

c.2530C>T

8 papers

NM_005228.5

p.V845M

c.2533G>A

8 papers

NM_005228.5

p.V845L

c.2533G>C

1 paper

NM_005228.5

p.V845insFs

c.2533_2534insC

8 papers

NM_005228.5

p.V845L

c.2533G>T

1 paper

NM_005228.5

p.V845E

c.2534T>A

10 papers

NM_005228.5

p.V845A

c.2534T>C

4 papers

NM_005228.5

p.V843A

c.2528T>C