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.N150delins

c.448_449delinsCC

Surrounding Variants

1 paper

NM_000254.3

p.N150D

c.448A>G

3 papers

NM_000254.3

p.K151R

c.452A>G

1 paper

NM_000254.3

p.T149insFs

c.445_446insA

1 paper

NM_000254.3

p.T149delFs

c.445_446delAC

3 papers

NM_000254.3

p.P148L

c.443C>T

5 papers

NM_000254.3

p.G147D

c.440G>A

2 papers

NM_000254.3

p.G147A

c.440G>C

1 paper

NM_000254.3

p.L153F

c.457C>T

1 paper

NM_000254.3

p.L153L

c.459C>A

1 paper

NM_000254.3

p.S154P

c.460T>C

1 paper

NM_000254.3

p.A145_L146delFs

c.435_436delTC

1 paper

NM_000254.3

p.G144G

c.432G>T