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.A120G

c.359C>G

Surrounding Variants

1 paper

NM_005228.5

p.A120V

c.359C>T

1 paper

NM_005228.5

p.A120delFs

c.360delA

1 paper

NM_005228.5

p.A120A

c.360A>T

5 papers

NM_005228.5

p.A120T

c.358G>A

1 paper

NM_005228.5

p.A120S

c.358G>T

1 paper

NM_005228.5

p.V121I

c.361G>A

2 papers

NM_005228.5

p.V121F

c.361G>T

1 paper

NM_005228.5

p.L119S

c.356T>C

1 paper

NM_005228.5

p.L122del1

c.364_365delTTA

1 paper

NM_005228.5

p.L119I

c.355T>A

1 paper

NM_005228.5

p.L119fs

c.355_356fs

1 paper

NM_005228.5

p.L119delFs

c.356_357delTA