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.R674H

c.2021G>A

Surrounding Variants

1 paper

NM_000254.3

p.R674S

c.2020C>A

1 paper

NM_000254.3

p.R674C

c.2020C>T

1 paper

NM_000254.3

p.L675I

c.2023C>A

2 papers

NM_000254.3

p.V671I

c.2011G>A

1 paper

NM_000254.3

p.E665fs

c.1993_1994fs

1 paper

NM_000254.3

p.D664_E665insFs

c.1992_1993ins4

6 papers

NM_000254.3

p.K658_V660del3

c.1972_1979del9

1 paper

NM_000254.3

p.G657_K659del3

c.1969_1976del9

2 papers

NM_000254.3

p.G656_K658del3

c.1966_1973del9

1 paper

NM_000254.3

p.G654D

c.1961G>A

1 paper

NM_000254.3

p.Q651_T652Splc

c.1954-6A>G

2 papers

NM_000254.3

p.Q651_T652Splc

c.1954-12A>G