Varaico: Literature-Extracted Genetic Variants

Gene:MTHFS
Variant:p.P168delFs

MTHFS

45 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism...

Pfam Domains

5-FTHF_cyc-ligaa 10–198UCSC5-formyltetrahydrofolate cyclo-ligase family

Gene Aliases

HGNC Name

methenyltetrahydrofolate synthetase

HGNC Alias Symbol

HsT19268

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006441.4
p.P168delFs
c.504delG
Surrounding Variants
1 paper
NM_006441.4
p.Y169fs
c.505_506fs
1 paper
NM_006441.4
p.Y169fs
c.505_506fs
1 paper
NM_006441.4
p.T170A
c.508A>G
1 paper
NM_006441.4
p.L171M
c.511C>A
1 paper
NM_006441.4
p.Q162*
c.484C>T
1 paper
NM_006441.4
p.P184L
c.551C>T
5 papers
NM_006441.4
p.R145Q
c.434G>A
1 paper
NM_006441.4
p.G136D
c.407G>A
6 papers
NM_006441.4
p.T202A
c.604A>G
1 paper
NM_006441.4
p.*204*
c.612A>G
4 papers
NM_006441.4
p.G127Splc
c.380-1411T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."