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

2 papers

NM_005957.5

p.K372delFs

c.1115delT

Surrounding Variants

6 papers

NM_005957.5

p.K372E

c.1114A>G

1 paper

NM_005957.5

p.K372Q

c.1114A>C

4 papers

NM_005957.5

p.Y374*

c.1122C>G

3 papers

NM_005957.5

p.Y374*

c.1122C>A

1 paper

NM_005957.5

p.I375I

c.1125C>T

1 paper

NM_005957.5

p.Y376C

c.1127A>G

29 papers

NM_005957.5

p.R377C

c.1129C>T

NM_001330358.2

p.R418C

c.1252C>T

2 papers

NM_005957.5

p.A368G

c.1103C>G

2 papers

NM_005957.5

p.A368D

c.1103C>A

1 paper

NM_005957.5

p.A368S

c.1102G>T

15 papers

NM_005957.5

p.R377H

c.1130G>A

3 papers

NM_005957.5

p.R377R

c.1131T>C