Varaico: Literature-Extracted Genetic Variants

MAT2A

86 papers

RefSeq Summary

The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011]...

Pfam Domains

S-AdoMet_synt_Naa 17–115UCSCS-adenosylmethionine synthetase, N-terminal domain

S-AdoMet_synt_Maa 129–250UCSCS-adenosylmethionine synthetase, central domain

S-AdoMet_synt_Caa 252–389UCSCS-adenosylmethionine synthetase, C-terminal domain

Gene Aliases

HGNC Name

methionine adenosyltransferase 2A

HGNC Alias Symbols

SAMS2; MATA2; MATII; MAT-II

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005911.6

p.D258H

c.772G>C

Surrounding Variants

2 papers

NM_005911.6

p.D258G

c.773A>G

1 paper

NM_005911.6

p.G257S

c.769G>A

2 papers

NM_005911.6

p.G257R

c.769G>C

2 papers

NM_005911.6

p.A259G

c.776C>G

2 papers

NM_005911.6

p.A259V

c.776C>T

2 papers

NM_005911.6

p.R264C

c.790C>T

2 papers

NM_005911.6

p.R264H

c.791G>A

1 paper

NM_005911.6

p.R264R

c.792C>G

1 paper

NM_005911.6

p.V268A

c.803T>C

1 paper

NM_005911.6

p.G273S

c.817G>A

4 papers

NM_005911.6

p.A276insFs

c.827_828insG

1 paper

NM_005911.6

p.A276V

c.827C>T