Varaico: Literature-Extracted Genetic Variants

Gene:EIF2B5
Variant:p.R195H

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
38 papers
NM_003907.3
p.R195H
c.584G>A
Surrounding Variants
15 papers
NM_003907.3
p.R195C
c.583C>T
2 papers
NM_003907.3
p.T194A
c.580A>G
1 paper
NM_003907.3
p.P193L
c.578C>T
1 paper
NM_003907.3
p.H197H
c.591C>T
8 papers
NM_003907.3
p.E198K
c.592G>A
3 papers
NM_003907.3
p.S191N
c.572G>A
1 paper
NM_003907.3
p.S191G
c.571A>G
1 paper
NM_003907.3
p.N200_D206del7
c.598_617del21
1 paper
NM_003907.3
p.S188T
c.562T>A
3 papers
NM_003907.3
p.A204_V205delFs
c.610_613del4
2 papers
NM_003907.3
p.V203_A204Fs
c.607_612delinsTGFs
2 papers
NM_003907.3
p.A204V
c.611C>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."