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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LCMT1

Variant:p.M312L

LCMT1

17 papers

RefSeq Summary

LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed ...

Pfam Domains

LCMaa 25–217UCSCLeucine carboxyl methyltransferase

Gene Aliases

HGNC Name

leucine carboxyl methyltransferase 1

HGNC Alias Symbols

CGI-68; PPMT1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr16:25174986 A>C

NM_016309.3

p.M312L

c.934A>C

exact variant not in gnomAD4 overlapping SVs

Surrounding Variants

1 paper

chr16:25174986 A>T

NM_016309.3

p.M312L

c.934A>T

exact variant not in gnomAD4 overlapping SVs

1 paper

chr16:25174989 C>T

NM_016309.3

p.R313W

c.937C>T

Exome: 0.0% (AC=43, hom=0)Genome: 0.0% (AC=3, hom=0)4 overlapping SVs

1 paper

chr16:25170736 G>T

NM_016309.3

p.G272V

c.815G>T

LCM

exact variant not in gnomAD6 overlapping SVs

1 paper

chr16:25170721 G>A

NM_016309.3

p.R267Q

c.800G>A

LCM

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr16:25170720 C>T

NM_016309.3

p.R267W

c.799C>T

LCM

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=3, hom=0)6 overlapping SVs

1 paper

chr16:25170711 T>C

NM_016309.3

p.Q264_K265Splc

c.793-3T>C

Exome: 11.2% (AC=163127, hom=10189)Genome: 13.7% (AC=20899, hom=1655)6 overlapping SVs

1 paper

chr16:25169127 C>T

NM_016309.3

p.R236W

c.706C>T

LCM

Exome: 0.0% (AC=6, hom=0)Genome: n/a5 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."