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.V250D

c.749T>A

Surrounding Variants

1 paper

NM_005228.5

p.V250delFs

c.750delC

4 papers

NM_005228.5

p.V250_K253del0

c.750_758del9

1 paper

NM_005228.5

p.C251_K253delFs

c.751_758del8

2 papers

NM_005228.5

p.V250I

c.748G>A

2 papers

NM_005228.5

p.V250delFs

c.749_750delTC

1 paper

NM_005228.5

p.V250_R252del0

c.749_754del6

17 papers

NM_005228.5

p.C251S

c.751T>A

1 paper

NM_005228.5

p.C251insFs

c.751_752insA

1 paper

NM_005228.5

p.C251insFs

c.751_752insC

1 paper

NM_005228.5

p.C251delFs

c.752delG

2 papers

NM_005228.5

p.C251_K253delFs

c.752_759del8

4 papers

NM_005228.5

p.C251Y

c.752G>A