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

5836 papers

NM_005228.5

p.T790M

c.2369C>T

NM_001346897.2

p.T745M

c.2234C>T

Surrounding Variants

2 papers

NM_005228.5

p.T790K

c.2369C>A

1 paper

NM_005228.5

p.T790_Q791insFs

c.2370_2371insAG

5 papers

NM_005228.5

p.T790R

c.2369C>G

2 papers

NM_005228.5

p.T790delins

c.2369_2370delinsTA

1 paper

NM_005228.5

p.T790delins

c.2369_2370delinsTT

3 papers

NM_005228.5

p.T790P

c.2368A>C

8 papers

NM_005228.5

p.T790A

c.2368A>G

5 papers

NM_005228.5

p.T790S

c.2368A>T

1 paper

NM_005228.5

p.T790delins

c.2368_2369delinsTT

3 papers

NM_005228.5

p.T790T

c.2370G>A

6 papers

NM_005228.5

p.I789M

c.2367C>G

2 papers

NM_005228.5

p.Q791E

c.2371C>G