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.E49E

c.147A>G

Surrounding Variants

1 paper

NM_000254.3

p.E49insFs

c.146dupA

1 paper

NM_000254.3

p.H50Q

c.150C>A

1 paper

NM_000254.3

p.F51I

c.151T>A

3 papers

NM_000254.3

p.R52Q

c.155G>A

1 paper

NM_000254.3

p.L46L

c.136C>T

1 paper

NM_000254.3

p.G53D

c.158G>A

1 paper

NM_000254.3

p.Q54K

c.160C>A

1 paper

NM_000254.3

p.K57Q

c.169A>C

1 paper

NM_000254.3

p.H59N

c.175C>A

1 paper

NM_000254.3

p.M37I

c.111G>A

1 paper

NM_000254.3

p.M37I

c.111G>C

1 paper

NM_000254.3

p.R61S

c.183G>C