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.Y1152fs

c.3454_3455fs

Surrounding Variants

1 paper

NM_000254.3

p.G1154S

c.3460G>A

1 paper

NM_000254.3

p.R1147*

c.3439C>T

1 paper

NM_000254.3

p.R1146H

c.3437G>A

1 paper

NM_000254.3

p.R1144G

c.3430A>G

1 paper

NM_000254.3

p.H1142R

c.3425A>G

2 papers

NM_000254.3

p.L1141L

c.3423C>T

1 paper

NM_000254.3

p.R1164H

c.3491G>A

1 paper

NM_000254.3

p.R1164R

c.3492C>A

1 paper

NM_000254.3

p.P1173R

c.3518C>G

26 papers

NM_000254.3

p.P1173L

c.3518C>T

1 paper

NM_000254.3

p.P1178S

c.3532C>T

5 papers

NM_000254.3

p.L1192L

c.3576C>T