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

1–12 of 401 variants

852 papers

NM_000254.3

p.D919G

c.2756A>G

56 papers

NM_000254.3

p.N433T

c.1298A>C

26 papers

NM_000254.3

p.P1173L

c.3518C>T

16 papers

NM_000254.3

p.R161K

c.482G>A

11 papers

NM_000254.3

p.I22M

c.66C>G

11 papers

NM_000254.3

p.H920D

c.2758C>G

8 papers

NM_000254.3

p.A175V

c.524C>T

8 papers

NM_000254.3

p.K203K

c.609G>A

7 papers

NM_000254.3

p.Q27R

c.80A>G

6 papers

NM_000254.3

p.R220del1

c.658_660delCGG

6 papers

NM_000254.3

p.K658_V660del3

c.1972_1979del9

6 papers

NM_000254.3

p.E922G

c.2765A>G