Varaico: Literature-Extracted Genetic Variants

Gene:MTHFSD
Variant:p.A57V

MTHFSD

37 papers

Pfam Domains

5-FTHF_cyc-ligaa 10–207UCSC5-formyltetrahydrofolate cyclo-ligase family
RRM_1aa 308–373UCSCRNA recognition motif

Gene Aliases

HGNC Name

methenyltetrahydrofolate synthetase domain containing

HGNC Alias Symbol

FLJ12998

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001159377.2
p.A57V
c.170C>T
Surrounding Variants
2 papers
NM_001159377.2
p.L45V
c.133C>G
1 paper
NM_001159377.2
p.K41_G42Splc
c.124-2A>G
1 paper
NM_001159377.2
p.P38A
c.112C>G
2 papers
NM_001159377.2
p.V6Splc
c.17-1G>A
1 paper
NM_001159377.2
p.K82*
c.244A>T
1 paper
NM_001159377.2
p.L84del1
c.250_252delCAA
1 paper
NM_001159377.2
p.P103L
c.308C>T
1 paper
NM_001159377.2
p.V119delFs
c.357delC
1 paper
NM_001159377.2
p.L128W
c.383T>G
1 paper
NM_001159377.2
p.V138L
c.412G>C
1 paper
NM_001159377.2
p.G152R
c.454G>C
1 paper
NM_001159377.2
p.G152R
c.454G>A
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