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.V188A

c.563T>C

Surrounding Variants

1 paper

NM_000254.3

p.D189N

c.565G>A

2 papers

NM_000254.3

p.D189insFs

c.567dupT

1 paper

NM_000254.3

p.G187E

c.560G>A

2 papers

NM_000254.3

p.I190insFs

c.568_569insT

2 papers

NM_000254.3

p.I190_L191insFs

c.570_571insT

1 paper

NM_000254.3

p.E194Q

c.580G>C

1 paper

NM_000254.3

p.A180A

c.540C>T

1 paper

NM_000254.3

p.A180insFs

c.539_540insTG

1 paper

NM_000254.3

p.D198_T199delFs

c.592_595del4

1 paper

NM_000254.3

p.T199T

c.597T>C

1 paper

NM_000254.3

p.A200insFs

c.598dupG

8 papers

NM_000254.3

p.A175V

c.524C>T