Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.L83delFs

EIF2B5

231 papers

RefSeq Summary

This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis...

Pfam Domains

W2aa 641–720UCSCeIF4-gamma/eIF5/eIF2-epsilon

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2B subunit epsilon

HGNC Alias Symbols

EIF2Bepsilon; EIF-2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003907.3
p.L83delFs
c.247delC
Surrounding Variants
12 papers
NM_003907.3
p.E81K
c.241G>A
1 paper
NM_003907.3
p.T84I
c.251C>T
4 papers
NM_003907.3
p.T79I
c.236C>T
4 papers
NM_003907.3
p.T86_F94delFs
c.256_281del26
4 papers
NM_003907.3
p.Y78S
c.233A>C
3 papers
NM_003907.3
p.D77G
c.230A>G
1 paper
NM_003907.3
p.D77_Y78delFs
c.231_232delCT
4 papers
NM_003907.3
p.A74T
c.220G>A
39 papers
NM_003907.3
p.T91A
c.271A>G
16 papers
NM_003907.3
p.V73G
c.218T>G
1 paper
NM_003907.3
p.V73M
c.217G>A
9 papers
NM_003907.3
p.L68S
c.203T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."