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.L453P

c.1358T>C

Surrounding Variants

1 paper

NM_005228.5

p.L453_K454del1

c.1359_1361delCAA

1 paper

NM_005228.5

p.L453V

c.1357C>G

1 paper

NM_005228.5

p.L453F

c.1357C>T

1 paper

NM_005228.5

p.K454E

c.1360A>G

1 paper

NM_005228.5

p.K454R

c.1361A>G

1 paper

NM_005228.5

p.S452F

c.1355C>T

1 paper

NM_005228.5

p.K454N

c.1362G>C

1 paper

NM_005228.5

p.K454N

c.1362G>T

1 paper

NM_005228.5

p.E455K

c.1363G>A

1 paper

NM_005228.5

p.E455Q

c.1363G>C

1 paper

NM_005228.5

p.E455*

c.1363G>T

1 paper

NM_005228.5

p.E455G

c.1364A>G