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.L782delins

c.2344_2345delinsAA

Surrounding Variants

1 paper

NM_005228.5

p.L782V

c.2344C>G

5 papers

NM_005228.5

p.L782F

c.2344C>T

1 paper

NM_005228.5

p.C781*

c.2343C>A

1 paper

NM_005228.5

p.L782L

c.2346C>G

2 papers

NM_005228.5

p.C781Y

c.2342G>A

1 paper

NM_005228.5

p.C781S

c.2342G>C

6 papers

NM_005228.5

p.C781F

c.2342G>T

2 papers

NM_005228.5

p.T783P

c.2347A>C

36 papers

NM_005228.5

p.T783A

c.2347A>G

1 paper

NM_005228.5

p.C781S

c.2341T>A

1 paper

NM_005228.5

p.C781fs

c.2341_2342fs

1 paper

NM_005228.5

p.I780_C781ins3

c.2340_2341ins9