Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.V256M

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
1 paper
NM_003907.3
p.V256M
c.766G>A
Surrounding Variants
2 papers
NM_003907.3
p.Q255_V256Splc
c.766-1G>A
1 paper
NM_003907.3
p.V256V
c.768G>A
3 papers
NM_003907.3
p.D262N
c.784G>A
1 paper
NM_003907.3
p.N263K
c.789C>A
1 paper
NM_003907.3
p.N263K
c.789C>G
1 paper
NM_003907.3
p.F264L
c.790T>C
5 papers
NM_003907.3
p.F264fs
c.790_791fs
1 paper
NM_003907.3
p.F264fs
c.790_791fs
1 paper
NM_003907.3
p.F264L
c.792T>A
2 papers
NM_003907.3
p.F264Fs
c.792delinsACAFs
1 paper
NM_003907.3
p.F264L
c.792T>G
1 paper
NM_003907.3
p.Q267*
c.799C>T
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."