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.I740insFs

c.2219_2220ins5

Surrounding Variants

2 papers

NM_005228.5

p.I740T

c.2219T>C

1 paper

NM_005228.5

p.I740S

c.2219T>G

1 paper

NM_005228.5

p.K745ins6

c.2234_2235ins18

1 paper

NM_005228.5

p.I740_K745del0

c.2220_2234del15

4 papers

NM_005228.5

p.I740_E746ins2

c.2219_2236dup18

5 papers

NM_005228.5

p.I740V

c.2218A>G

2 papers

NM_005228.5

p.I740F

c.2218A>T

1 paper

NM_005228.5

p.I740delFs

c.2220delT

3 papers

NM_005228.5

p.P741ins2

c.2222_2223ins6

1 paper

NM_005228.5

p.P741del1

c.2221_2222delCCC

2 papers

NM_005228.5

p.I740_K745ins2

c.2218_2235dup18

2 papers

NM_005228.5

p.K739N

c.2217A>C