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

20 papers

NM_005228.5

p.C260S

c.779G>C

Surrounding Variants

2 papers

NM_005228.5

p.C260Y

c.779G>A

1 paper

NM_005228.5

p.C260W

c.780C>G

1 paper

NM_005228.5

p.C260insFs

c.779dupG

1 paper

NM_005228.5

p.K261_D262insC

c.781_785ins3

1 paper

NM_005228.5

p.K261*

c.781A>T

1 paper

NM_005228.5

p.T259T

c.777G>A

1 paper

NM_005228.5

p.K261R

c.782A>G

7 papers

NM_005228.5

p.T259M

c.776C>T

3 papers

NM_005228.5

p.T259A

c.775A>G

1 paper

NM_005228.5

p.K261K

c.783G>A

4 papers

NM_005228.5

p.K261N

c.783G>C

5 papers

NM_005228.5

p.K261N

c.783G>T