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

1 paper

NM_000254.3

p.N433S

c.1298A>G

Surrounding Variants

56 papers

NM_000254.3

p.N433T

c.1298A>C

1 paper

NM_000254.3

p.N433I

c.1298A>T

1 paper

NM_000254.3

p.C432Y

c.1295G>A

1 paper

NM_000254.3

p.I435_A436del2

c.1303_1307del6

2 papers

NM_000254.3

p.S437Y

c.1310C>A

1 paper

NM_000254.3

p.M428K

c.1283T>A

1 paper

NM_000254.3

p.E438E

c.1314G>A

1 paper

NM_000254.3

p.A442E

c.1325C>A

1 paper

NM_000254.3

p.K443R

c.1328A>G

1 paper

NM_000254.3

p.D419G

c.1256A>G

1 paper

NM_000254.3

p.K443_V444Splc

c.1329+12T>G

1 paper

NM_000254.3

p.V415V

c.1245C>G