Varaico: Literature-Extracted Genetic Variants

Gene:MTHFD2L
Variant:p.P138L

MTHFD2L

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001144978.3
p.P138L
c.413C>T
Surrounding Variants
1 paper
NM_001144978.3
p.L134S
c.401T>C
1 paper
NM_001144978.3
p.L127L
c.381T>C
1 paper
NM_001144978.3
p.L128delFs
c.382_383delTT
1 paper
NM_001144978.3
p.G110Splc
c.329-2A>G
1 paper
NM_001144978.3
p.V109I
c.325G>A
1 paper
NM_001144978.3
p.K102N
c.306G>C
1 paper
NM_001144978.3
p.K102N
c.306G>T
1 paper
NM_001144978.3
p.A94G
c.281C>G
1 paper
NM_001144978.3
p.P93S
c.277C>T
1 paper
NM_001144978.3
p.D91H
c.271G>C
2 papers
NM_001144978.3
p.V75F
c.223G>T
2 papers
NM_001144978.3
p.R69Q
c.206G>A
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