Varaico: Literature-Extracted Genetic Variants

Gene:EIF5
Variant:p.L232*

EIF5

51 papers

RefSeq Summary

Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiati...

Pfam Domains

eIF-5_eIF-2Baa 6–128UCSCDomain found in IF2B/IF5
W2aa 310–392UCSCeIF4-gamma/eIF5/eIF2-epsilon

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001969.5
p.L232*
c.695T>A
Surrounding Variants
1 paper
NM_001969.5
p.E237D
c.711G>C
2 papers
NM_001969.5
p.Q212E
c.634C>G
1 paper
NM_001969.5
p.E209K
c.625G>A
1 paper
NM_001969.5
p.D201N
c.601G>A
1 paper
NM_001969.5
p.E196D
c.588A>C
1 paper
NM_001969.5
p.E196D
c.588A>T
1 paper
NM_001969.5
p.K250R
c.749A>G
1 paper
NM_001969.5
p.P191S
c.571C>T
1 paper
NM_001969.5
p.P191del1
c.571_572delCCT
1 paper
NM_001969.5
p.M275I
c.825G>A
1 paper
NM_001969.5
p.M275I
c.825G>C
1 paper
NM_001969.5
p.M275I
c.825G>T
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