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.L788H

c.2363T>A

Surrounding Variants

1 paper

NM_005228.5

p.L788P

c.2363T>C

1 paper

NM_005228.5

p.L788I

c.2362C>A

4 papers

NM_005228.5

p.L788V

c.2362C>G

8 papers

NM_005228.5

p.L788F

c.2362C>T

4 papers

NM_005228.5

p.L788L

c.2364C>T

1 paper

NM_005228.5

p.L788fs

c.2362_2363fs

1 paper

NM_005228.5

p.I789L

c.2365A>C

2 papers

NM_005228.5

p.I789F

c.2365A>T

1 paper

NM_005228.5

p.I789delFs

c.2366delT

114 papers

NM_005228.5

p.Q787Q

c.2361G>A

4 papers

NM_005228.5

p.Q787H

c.2361G>C

5 papers

NM_005228.5

p.Q787H

c.2361G>T