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

38 papers

NM_005228.5

p.L838V

c.2512C>G

Surrounding Variants

6 papers

NM_005228.5

p.L838M

c.2512C>A

1 paper

NM_005228.5

p.D837E

c.2511C>A

1 paper

NM_005228.5

p.D837E

c.2511C>G

1 paper

NM_005228.5

p.D837D

c.2511C>T

24 papers

NM_005228.5

p.L838P

c.2513T>C

5 papers

NM_005228.5

p.L838R

c.2513T>G

1 paper

NM_005228.5

p.L838_K846delFs

c.2514_2536del23

6 papers

NM_005228.5

p.D837A

c.2510A>C

1 paper

NM_005228.5

p.D837G

c.2510A>G

2 papers

NM_005228.5

p.D837V

c.2510A>T

2 papers

NM_005228.5

p.L838L

c.2514G>A

40 papers

NM_005228.5

p.A839T

c.2515G>A