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

6 papers

NM_005228.5

p.V738A

c.2213T>C

Surrounding Variants

1 paper

NM_005228.5

p.V738D

c.2213T>A

8 papers

NM_005228.5

p.V738G

c.2213T>G

1 paper

NM_005228.5

p.V738I

c.2212G>A

2 papers

NM_005228.5

p.V738L

c.2212G>C

11 papers

NM_005228.5

p.V738_I744ins2

c.2214_2231dup18

6 papers

NM_005228.5

p.V738F

c.2212G>T

1 paper

NM_005228.5

p.V738V

c.2214T>A

11 papers

NM_005228.5

p.K739_K745ins2

c.2217_2234dup18

2 papers

NM_005228.5

p.V738_K739delins

c.2214_2215delinsAC

1 paper

NM_005228.5

p.K739delFs

c.2215delA

1 paper

NM_005228.5

p.K739insFs

c.2215_2216ins19

3 papers

NM_005228.5

p.K739Q

c.2215A>C