Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.S130L

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.S130L
c.389C>T
Surrounding Variants
2 papers
NM_003907.3
p.R129*
c.385C>T
2 papers
NM_003907.3
p.Y128C
c.383A>G
1 paper
NM_003907.3
p.G132E
c.395G>A
6 papers
NM_003907.3
p.G132A
c.395G>C
1 paper
NM_003907.3
p.D133A
c.398A>C
1 paper
NM_003907.3
p.D133V
c.398A>T
6 papers
NM_003907.3
p.L127P
c.380T>C
12 papers
NM_003907.3
p.R136C
c.406C>T
9 papers
NM_003907.3
p.R136H
c.407G>A
2 papers
NM_003907.3
p.R121Q
c.362G>A
2 papers
NM_003907.3
p.V144L
c.430G>C
1 paper
NM_003907.3
p.T115A
c.343A>G
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."