Varaico: Literature-Extracted Genetic Variants

MTHFR

5,247 papers

RefSeq Summary

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation ...

Pfam Domains

MTHFRaa 88–377UCSCMethylenetetrahydrofolate reductase

MTHFR_Caa 384–684UCSCMTHFR, SAM-binding regulatory domain

Gene Aliases

HGNC Name

methylenetetrahydrofolate reductase

HGNC Previous Names

5,10-methylenetetrahydrofolate reductase (NADPH); methylenetetrahydrofolate reductase (NAD(P)H)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

16 papers

NM_005957.5

p.I153M

c.459C>G

Surrounding Variants

10 papers

NM_005957.5

p.I153delins

c.458_459delinsTT

2 papers

NM_005957.5

p.I153Fs

c.459delinsTTFs

1 paper

NM_005957.5

p.N152S

c.455A>G

1 paper

NM_005957.5

p.A155E

c.464C>A

1 paper

NM_005957.5

p.K151R

c.452A>G

3 papers

NM_005957.5

p.K151T

c.452A>C

2 papers

NM_005957.5

p.L156P

c.467T>C

2 papers

NM_005957.5

p.K151*

c.451A>T

2 papers

NM_005957.5

p.K151E

c.451A>G

1 paper

NM_005957.5

p.M154_L156delFs

c.460_467del8

2 papers

NM_005957.5

p.L150delins

c.448_449delinsCC

2 papers

NM_005957.5

p.R157W

c.469C>T