Varaico: Literature-Extracted Genetic Variants

Gene:MTRF1L
Variant:p.N305_K306del2

MTRF1L

29 papers

RefSeq Summary

The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the fina...

Pfam Domains

PCRFaa 49–221UCSCPCRF domain
RF-1aa 228–338UCSCRF-1 domain

Gene Aliases

HGNC Name

mitochondrial translation release factor 1 like

HGNC Alias Symbols

HMRF1L; mtRF1a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019041.7
p.N305_K306del2
c.913_917del6
Surrounding Variants
1 paper
NM_019041.7
p.N305_K306delFs
c.915_918del4
1 paper
NM_019041.7
p.G269D
c.806G>A
1 paper
NM_019041.7
p.S321P
c.961T>C
1 paper
NM_019041.7
p.E322K
c.964G>A
1 paper
NM_019041.7
p.Y327fs
c.979_980fs
1 paper
NM_019041.7
p.A367T
c.1099G>A
1 paper
NM_019041.7
p.V380I
c.1138G>A
1 paper
NM_019041.7
p.H265R
c.794A>G
1 paper
NM_019041.7
p.E229G
c.686A>G
3 papers
NM_019041.7
p.V214I
c.640G>A
1 paper
NM_019041.7
p.R213H
c.638G>A
1 paper
NM_019041.7
p.E188K
c.562G>A
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