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

1 paper

NM_005957.5

p.F366F

c.1098C>T

Surrounding Variants

1 paper

NM_005957.5

p.W367*

c.1100G>A

1 paper

NM_005957.5

p.W367C

c.1101G>T

1 paper

NM_005957.5

p.V362_W367delFs

c.1085_1100del16

3 papers

NM_005957.5

p.I365I

c.1095C>A

1 paper

NM_005957.5

p.A368S

c.1102G>T

2 papers

NM_005957.5

p.A368G

c.1103C>G

2 papers

NM_005957.5

p.A368D

c.1103C>A

2 papers

NM_005957.5

p.P364R

c.1091C>G

1 paper

NM_005957.5

p.P364S

c.1090C>T

1 paper

NM_005957.5

p.R363L

c.1088G>T

7 papers

NM_005957.5

p.R363H

c.1088G>A

1 paper

NM_005957.5

p.R363G

c.1087C>G