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.N604del1

c.1810_1811delAAC

Surrounding Variants

1 paper

NM_005228.5

p.N603_A613del11

c.1807_1838del33

2 papers

NM_005228.5

p.N603D

c.1807A>G

1 paper

NM_005228.5

p.E602G

c.1805A>G

3 papers

NM_005228.5

p.E602K

c.1804G>A

5 papers

NM_005228.5

p.E602Q

c.1804G>C

1 paper

NM_005228.5

p.G601G

c.1803A>T

4 papers

NM_005228.5

p.N604D

c.1810A>G

4 papers

NM_005228.5

p.G601E

c.1802G>A

1 paper

NM_005228.5

p.G601V

c.1802G>T

1 paper

NM_005228.5

p.N604S

c.1811A>G

1 paper

NM_005228.5

p.N604I

c.1811A>T

1 paper

NM_005228.5

p.G601R

c.1801G>A