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

3 papers

NM_000254.3

p.D919A

c.2756A>C

Surrounding Variants

852 papers

NM_000254.3

p.D919G

c.2756A>G

11 papers

NM_000254.3

p.H920D

c.2758C>G

1 paper

NM_000254.3

p.H920R

c.2759A>G

6 papers

NM_000254.3

p.E922G

c.2765A>G

1 paper

NM_000254.3

p.E922E

c.2766G>A

1 paper

NM_000254.3

p.N900delFs

c.2699delA

2 papers

NM_000254.3

p.K925_E926Splc

c.2775+43G>A

1 paper

NM_000254.3

p.G939R

c.2815G>C

2 papers

NM_000254.3

p.D963E

c.2889C>A

2 papers

NM_000254.3

p.D963E

c.2889C>G

1 paper

NM_000254.3

p.W975*

c.2924G>A

1 paper

NM_000254.3

p.W975*

c.2925G>A