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

7 papers

NM_005228.5

p.P772R

c.2315C>G

Surrounding Variants

4 papers

NM_005228.5

p.P772H

c.2315C>A

1 paper

NM_005228.5

p.P772ins1

c.2315_2316insACG

74 papers

NM_005228.5

p.H773_V774ins1

c.2319_2320insCAC

2 papers

NM_005228.5

p.H773_V774ins2

c.2319_2320ins6

16 papers

NM_005228.5

p.V774ins2

c.2321_2322ins6

1 paper

NM_005228.5

p.H773ins1

c.2317_2318insGCC

1 paper

NM_005228.5

p.P772ins1

c.2315_2316insGTT

1 paper

NM_005228.5

p.P772ins1

c.2315_2316ins3

7 papers

NM_005228.5

p.P772L

c.2315C>T

1 paper

NM_005228.5

p.H773del1

c.2317_2318delCAC

2 papers

NM_005228.5

p.P772delins

c.2316delinsAACCAACCCT

1 paper

NM_005228.5

p.P772Fs

c.2316delinsAACCCAACCCACCCAFs