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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTG2

MTG2

39 papers

RefSeq Summary

Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficki...

Pfam Domains

GTP1_OBGaa 73–223UCSCGTP1/OBG

MMR_HSR1aa 226–346UCSC50S ribosome-binding GTPase

Gene Aliases

HGNC Name

mitochondrial ribosome associated GTPase 2

HGNC Previous Symbol

GTPBP5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 36 variants

2 papers

chr20:62197942 G>A

NM_015666.4

p.R148H

c.443G>A

GTP1_OBG

Exome: 0.0% (AC=73, hom=0)Genome: 0.0% (AC=6, hom=0)7 overlapping SVs

1 paper

chr20:62193441 C>T

NM_015666.4

p.F7F

c.21C>T

Exome: 13.4% (AC=195802, hom=17218)Genome: 14.3% (AC=21781, hom=1916)6 overlapping SVs

1 paper

chr20:62193480 T>A

NM_015666.4

p.H20Q

c.60T>A

exact variant not in gnomAD6 overlapping SVs

1 paper

chr20:62193480 T>G

NM_015666.4

p.H20Q

c.60T>G

exact variant not in gnomAD6 overlapping SVs

1 paper

chr20:62193485 C>G

NM_015666.4

p.A22G

c.65C>G

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=4, hom=0)6 overlapping SVs

1 paper

chr20:62193496 T>A

NM_015666.4

p.W26R

c.76T>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr20:62193496 T>C

NM_015666.4

p.W26R

c.76T>C

Exome: n/aGenome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr20:62193559 G>A

NM_015666.4

p.G47S

c.139G>A

Exome: 14.2% (AC=206858, hom=15885)Genome: 13.1% (AC=19888, hom=1401)6 overlapping SVs

1 paper

chr20:62195807 G>A

NM_015666.4

p.R70R

c.210G>A

Exome: 0.0% (AC=59, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr20:62195863 C>A

NM_015666.4

p.A89E

c.266C>A

GTP1_OBG

Exome: 0.0% (AC=2, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr20:62195869 G>A

NM_015666.4

p.C91Y

c.272G>A

GTP1_OBG

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr20:62195875 A>G

NM_015666.4

p.H93R

c.278A>G

GTP1_OBG

Exome: 1.3% (AC=19007, hom=209)Genome: 1.3% (AC=1985, hom=23)6 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."