Varaico: Literature-Extracted Genetic Variants

Gene:EGFR
Variant:p.L747L

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
5 papers
NM_005228.5
p.L747L
c.2239T>C
Surrounding Variants
15 papers
NM_005228.5
p.L747V
c.2239T>G
8 papers
NM_005228.5
p.L747fs
c.2239_2240fs
18 papers
NM_005228.5
p.L747delins
c.2239_2240delinsCC
2 papers
NM_005228.5
p.L747delins
c.2239_2240delinsGC
10 papers
NM_005228.5
p.L747fs
c.2239_2240fs
1 paper
NM_005228.5
p.L747_R748delins
c.2239_2243delinsCC
2 papers
NM_005228.5
p.L747_E749Fs
c.2239_2247delinsCFs
65 papers
NM_005228.5
p.L747_A750delins
c.2239_2248delinsC
16 papers
NM_005228.5
p.L747_A750del0
c.2240_2248del9
1 paper
NM_005228.5
p.L747_A750Fs
c.2239_2250delinsCFs
2 papers
NM_005228.5
p.L747_A750delins
c.2239_2250delinsCCG
36 papers
NM_005228.5
p.L747_T751delins
c.2239_2251delinsC
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