Varaico: Literature-Extracted Genetic Variants

MTR

1,434 papers

RefSeq Summary

This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. ...

Pfam Domains

S-methyl_transaa 31–338UCSCHomocysteine S-methyltransferase

Pterin_bindaa 375–613UCSCPterin binding enzyme

B12-binding_2aa 671–748UCSCB12 binding domain

B12-bindingaa 773–873UCSCB12 binding domain

Met_synt_B12aa 965–1246UCSCVitamin B12 dependent methionine synthase, activation domain

Gene Aliases

HGNC Name

5-methyltetrahydrofolate-homocysteine methyltransferase

HGNC Alias Symbol

cblG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000254.3

p.L33P

c.98T>C

Surrounding Variants

1 paper

NM_000254.3

p.M31I

c.93G>A

1 paper

NM_000254.3

p.G35R

c.103G>A

1 paper

NM_000254.3

p.G35*

c.103G>T

1 paper

NM_000254.3

p.M37I

c.111G>A

1 paper

NM_000254.3

p.M37I

c.111G>C

1 paper

NM_000254.3

p.M37I

c.111G>T

7 papers

NM_000254.3

p.Q27R

c.80A>G

1 paper

NM_000254.3

p.L26P

c.77T>C

1 paper

NM_000254.3

p.I25V

c.73A>G

1 paper

NM_000254.3

p.A24G

c.71C>G

2 papers

NM_000254.3

p.N23D

c.67A>G

11 papers

NM_000254.3

p.I22M

c.66C>G