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.V1002L

c.3004G>C

Surrounding Variants

1 paper

NM_000254.3

p.V1002L

c.3004G>T

1 paper

NM_000254.3

p.V1002G

c.3005T>G

1 paper

NM_000254.3

p.G1003Splc

c.3007+1G>A

1 paper

NM_000254.3

p.K987T

c.2960A>C

1 paper

NM_000254.3

p.W975*

c.2925G>A

1 paper

NM_000254.3

p.W975*

c.2924G>A

2 papers

NM_000254.3

p.D963E

c.2889C>A

2 papers

NM_000254.3

p.D963E

c.2889C>G

3 papers

NM_000254.3

p.G1003Splc

c.3008-4A>G

1 paper

NM_000254.3

p.R1027W

c.3079C>T

1 paper

NM_000254.3

p.F1034C

c.3101T>G

2 papers

NM_000254.3

p.A1037P

c.3109G>C