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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTRF1L

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 29 variants

3 papers

chr6:152994560 C>T

NM_019041.7

p.V214I

c.640G>A

PCRF

Exome: 19.8% (AC=288900, hom=30003)Genome: 21.5% (AC=32600, hom=3614)44 overlapping SVs

2 papers

chr6:153002651 C>A

NM_019041.7

p.W12L

c.35G>T

Exome: 0.2% (AC=2914, hom=4)Genome: 0.2% (AC=247, hom=0)43 overlapping SVs

2 papers

chr6:153002459 C>T

NM_019041.7

p.R76Q

c.227G>A

PCRF

Exome: 68.6% (AC=1002850, hom=344936)Genome: 69.1% (AC=105218, hom=36471)43 overlapping SVs

1 paper

chr6:153002671 A>G

NM_019041.7

p.V5V

c.15T>C

Exome: 19.5% (AC=261642, hom=26283)Genome: 21.5% (AC=32702, hom=3638)43 overlapping SVs

1 paper

chr6:153002640 G>A

NM_019041.7

p.R16C

c.46C>T

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=0, hom=0)43 overlapping SVs

1 paper

chr6:153002574 T>C

NM_019041.7

p.T38A

c.112A>G

Exome: 68.5% (AC=957478, hom=330390)Genome: 69.1% (AC=105175, hom=36466)43 overlapping SVs

1 paper

chr6:153002540 C>T

NM_019041.7

p.R49H

c.146G>A

PCRF

Exome: 0.0% (AC=1, hom=0)Genome: n/a43 overlapping SVs

1 paper

chr6:153002495 A>G

NM_019041.7

p.L64S

c.191T>C

PCRF

Exome: 0.0% (AC=347, hom=0)Genome: 0.0% (AC=39, hom=0)43 overlapping SVs

1 paper

chr6:153002457 C>T

NM_019041.7

p.E77K

c.229G>A

PCRF

Exome: 0.0% (AC=1, hom=0)Genome: n/a43 overlapping SVs

1 paper

chr6:152998647 G>A

NM_019041.7

p.D87Splc

c.260-18C>T

Exome: 0.6% (AC=8908, hom=333)Genome: 4.1% (AC=6183, hom=381)43 overlapping SVs

1 paper

chr6:152998579 GAC>G

NM_019041.7

p.L102delFs

c.305_306delCA

PCRF

exact variant not in gnomAD43 overlapping SVs

1 paper

chr6:152995266 C>T

NM_019041.7

p.L131L

c.393G>A

PCRF

Exome: 0.0% (AC=1, hom=0)Genome: n/a44 overlapping SVs

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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."