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

2 papers

NM_005228.5

p.T751_K754delFs

c.2253_2260del8

Surrounding Variants

1 paper

NM_005228.5

p.T751Fs

c.2252delinsATTFs

1 paper

NM_005228.5

p.T751_S752insFs

c.2253_2254insA

1 paper

NM_005228.5

p.T751insFs

c.2252_2253ins7

1 paper

NM_005228.5

p.T751R

c.2252C>G

50 papers

NM_005228.5

p.T751I

c.2252C>T

1 paper

NM_005228.5

p.T751delFs

c.2253delA

1 paper

NM_005228.5

p.T751_S752delFs

c.2253_2254delAT

1 paper

NM_005228.5

p.T751_I759delFs

c.2253_2275del23

1 paper

NM_005228.5

p.T751_I759Fs

c.2252_2275delinsGFs

15 papers

NM_005228.5

p.T751_I759delins

c.2252_2276delinsA

54 papers

NM_005228.5

p.T751_I759del0

c.2253_2276del24

3 papers

NM_005228.5

p.T751_I759delins

c.2252_2276delinsG