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

36 papers

NM_005228.5

p.T783A

c.2347A>G

Surrounding Variants

2 papers

NM_005228.5

p.T783P

c.2347A>C

1 paper

NM_005228.5

p.L782L

c.2346C>G

14 papers

NM_005228.5

p.T783I

c.2348C>T

1 paper

NM_005228.5

p.T783T

c.2349C>A

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.L782delins

c.2344_2345delinsAA

1 paper

NM_005228.5

p.S784T

c.2350T>A

19 papers

NM_005228.5

p.S784P

c.2350T>C

1 paper

NM_005228.5

p.S784fs

c.2350_2351fs

1 paper

NM_005228.5

p.S784_T785delFs

c.2351_2355del5

10 papers

NM_005228.5

p.S784Y

c.2351C>A