Varaico: Literature-Extracted Genetic Variants

Gene:MTHFSD
Variant:p.G250_D252del3

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.G250_D252del3
c.748_755del9
Surrounding Variants
1 paper
NM_001159377.2
p.G250_D252del0
c.750_755del6
1 paper
NM_001159377.2
p.E246_A249delFs
c.737_746del10
1 paper
NM_001159377.2
p.E246fs
c.736_737fs
1 paper
NM_001159377.2
p.A244P
c.730G>C
2 papers
NM_001159377.2
p.A244T
c.730G>A
3 papers
NM_001159377.2
p.R243C
c.727C>T
1 paper
NM_001159377.2
p.L242F
c.724C>T
1 paper
NM_001159377.2
p.R240T
c.719G>C
2 papers
NM_001159377.2
p.S296C
c.887C>G
1 paper
NM_001159377.2
p.G315R
c.943G>C
1 paper
NM_001159377.2
p.G315R
c.943G>A
1 paper
NM_001159377.2
p.R327W
c.979C>T
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