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.A859D

c.2576C>A

Surrounding Variants

5 papers

NM_005228.5

p.A859V

c.2576C>T

53 papers

NM_005228.5

p.A859T

c.2575G>A

14 papers

NM_005228.5

p.A859S

c.2575G>T

1 paper

NM_005228.5

p.A859fs

c.2575_2576fs

2 papers

NM_005228.5

p.K860fs

c.2578_2579fs

5 papers

NM_005228.5

p.K860E

c.2578A>G

2 papers

NM_005228.5

p.K860fs

c.2578_2579fs

2 papers

NM_005228.5

p.L858L

c.2574G>A

1 paper

NM_005228.5

p.L858L

c.2574G>C

1 paper

NM_005228.5

p.L858Fs

c.2574delinsGCFs

2 papers

NM_005228.5

p.L858Fs

c.2574delinsGTFs

6 papers

NM_005228.5

p.L858L

c.2574G>T