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.S50_L51delFs

c.148_151del4

Surrounding Variants

1 paper

NM_005228.5

p.L49H

c.146T>A

3 papers

NM_005228.5

p.L49P

c.146T>C

2 papers

NM_005228.5

p.L49F

c.145C>T

1 paper

NM_005228.5

p.S50_R53del0

c.148_159del12

2 papers

NM_005228.5

p.S50C

c.148A>T

2 papers

NM_005228.5

p.F48L

c.144T>A

2 papers

NM_005228.5

p.F48L

c.144T>G

1 paper

NM_005228.5

p.S50N

c.149G>A

2 papers

NM_005228.5

p.S50I

c.149G>T

1 paper

NM_005228.5

p.F48Y

c.143T>A

1 paper

NM_005228.5

p.S50R

c.150C>A

1 paper

NM_005228.5

p.L51delFs

c.152_153delTC