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

7 papers

NM_005957.5

p.R445W

c.1333C>T

Surrounding Variants

2 papers

NM_005957.5

p.R445Q

c.1334G>A

2 papers

NM_005957.5

p.N446D

c.1336A>G

1 paper

NM_005957.5

p.P443S

c.1327C>T

2 papers

NM_005957.5

p.N446_G447del2

c.1336_1340del6

9 papers

NM_005957.5

p.S440S

c.1320G>A

5 papers

NM_005957.5

p.S440L

c.1319C>T

1 paper

NM_005957.5

p.K449N

c.1347A>C

1 paper

NM_005957.5

p.S440A

c.1318T>G

2 papers

NM_005957.5

p.K449_V450Splc

c.1347+1G>A

1 paper

NM_005957.5

p.L439L

c.1317C>T

1 paper

NM_005957.5

p.L439L

c.1317C>A

13 papers

NM_005957.5

p.L439P

c.1316T>C