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.N386K

c.1158C>G

Surrounding Variants

1 paper

NM_005957.5

p.G387S

c.1159G>A

7 papers

NM_005957.5

p.G387D

c.1160G>A

7 papers

NM_005957.5

p.R388C

c.1162C>T

1 paper

NM_005957.5

p.P385L

c.1154C>T

2 papers

NM_005957.5

p.R388H

c.1163G>A

1 paper

NM_005957.5

p.P385S

c.1153C>T

1 paper

NM_005957.5

p.F384F

c.1152C>T

2 papers

NM_005957.5

p.F384L

c.1150T>C

5 papers

NM_005957.5

p.W389*

c.1166G>A

1 paper

NM_005957.5

p.W389Splc

c.1166+1G>T

2 papers

NM_005957.5

p.W389Splc

c.1166+1G>A

1 paper

NM_005957.5

p.W389Splc

c.1166+5G>C