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

2 papers

NM_005911.6

p.R299C

c.895C>T

Surrounding Variants

3 papers

NM_005911.6

p.R299H

c.896G>A

1 paper

NM_005911.6

p.A297A

c.891T>G

2 papers

NM_005911.6

p.A297D

c.890C>A

1 paper

NM_005911.6

p.L305P

c.914T>C

3 papers

NM_005911.6

p.R292C

c.874C>T

3 papers

NM_005911.6

p.K289N

c.867G>C

3 papers

NM_005911.6

p.K289N

c.867G>T

1 paper

NM_005911.6

p.K289T

c.866A>C

1 paper

NM_005911.6

p.G309A

c.926G>C

4 papers

NM_005911.6

p.A276insFs

c.827_828insG

1 paper

NM_005911.6

p.A276V

c.827C>T

1 paper

NM_005911.6

p.G273S

c.817G>A