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.H618P

c.1853A>C

Surrounding Variants

2 papers

NM_005228.5

p.H618L

c.1853A>T

2 papers

NM_005228.5

p.H618Y

c.1852C>T

1 paper

NM_005228.5

p.L619M

c.1855C>A

1 paper

NM_005228.5

p.L619L

c.1855C>T

1 paper

NM_005228.5

p.C617S

c.1850G>C

2 papers

NM_005228.5

p.C617F

c.1850G>T

2 papers

NM_005228.5

p.C617R

c.1849T>C

2 papers

NM_005228.5

p.C617G

c.1849T>G

4 papers

NM_005228.5

p.C620S

c.1858T>A

6 papers

NM_005228.5

p.C620R

c.1858T>C

1 paper

NM_005228.5

p.C620G

c.1858T>G

19 papers

NM_005228.5

p.C620Y

c.1859G>A