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.V851L

c.2551G>C

Surrounding Variants

21 papers

NM_005228.5

p.V851I

c.2551G>A

1 paper

NM_005228.5

p.V851D

c.2552T>A

13 papers

NM_005228.5

p.V851A

c.2552T>C

1 paper

NM_005228.5

p.V851_K860del10

c.2551_2579del30

5 papers

NM_005228.5

p.H850R

c.2549A>G

1 paper

NM_005228.5

p.H850L

c.2549A>T

1 paper

NM_005228.5

p.V851V

c.2553C>G

1 paper

NM_005228.5

p.K852Q

c.2554A>C

2 papers

NM_005228.5

p.K852E

c.2554A>G

7 papers

NM_005228.5

p.H850N

c.2548C>A

1 paper

NM_005228.5

p.H850insFs

c.2549_2550insA

1 paper

NM_005228.5

p.H850_I853ins1

c.2549_2557dup9