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

3 papers

NM_005228.5

p.N808S

c.2423A>G

Surrounding Variants

1 paper

NM_005228.5

p.N808T

c.2423A>C

1 paper

NM_005228.5

p.N808H

c.2422A>C

1 paper

NM_005228.5

p.N808D

c.2422A>G

1 paper

NM_005228.5

p.N808K

c.2424T>A

1 paper

NM_005228.5

p.N808K

c.2424T>G

1 paper

NM_005228.5

p.I809V

c.2425A>G

1 paper

NM_005228.5

p.I809F

c.2425A>T

1 paper

NM_005228.5

p.I809delFs

c.2426_2427delTT

1 paper

NM_005228.5

p.I809fs

c.2425_2426fs

2 papers

NM_005228.5

p.D807E

c.2421C>A

2 papers

NM_005228.5

p.D807E

c.2421C>G

1 paper

NM_005228.5

p.D807A

c.2420A>C