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

5 papers

NM_005228.5

p.L862P

c.2585T>C

Surrounding Variants

5 papers

NM_005228.5

p.L862Q

c.2585T>A

4 papers

NM_005228.5

p.L862R

c.2585T>G

1 paper

NM_005228.5

p.G863delFs

c.2588delG

1 paper

NM_005228.5

p.L862M

c.2584C>A

6 papers

NM_005228.5

p.L862V

c.2584C>G

1 paper

NM_005228.5

p.L862_G863insFs

c.2586_2587insT

14 papers

NM_005228.5

p.G863S

c.2587G>A

1 paper

NM_005228.5

p.G863_A864ins4

c.2587_2591ins12

7 papers

NM_005228.5

p.G863C

c.2587G>T

1 paper

NM_005228.5

p.G863fs

c.2587_2588fs

51 papers

NM_005228.5

p.G863D

c.2588G>A

3 papers

NM_005228.5

p.G863V

c.2588G>T