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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTHFD2L

Variant:p.A18V

MTHFD2L

4q13.3 (UCSC)OMIM GTEx

47 papers

Pfam Domains

THF_DHG_CYHaa 54–169UCSCTetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

THF_DHG_CYH_Caa 188–346UCSCTetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain

Gene Aliases

HGNC Name

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like

HGNC Alias Symbol

MGC72244

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr4:74158191 C>T

NM_001144978.3

p.A18V

c.53C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a92 overlapping SVs

Surrounding Variants

chr4:74158169 C>G

NM_001144978.3

p.L11V

c.31C>G

exact variant not in gnomAD92 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."