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

3 papers

NM_005911.6

p.R356P

c.1067G>C

Surrounding Variants

3 papers

NM_005911.6

p.R356H

c.1067G>A

1 paper

NM_005911.6

p.R356L

c.1067G>T

1 paper

NM_005911.6

p.R356C

c.1066C>T

1 paper

NM_005911.6

p.R356R

c.1068C>T

2 papers

NM_005911.6

p.P357L

c.1070C>T

1 paper

NM_005911.6

p.F353L

c.1059C>A

1 paper

NM_005911.6

p.F353L

c.1059C>G

1 paper

NM_005911.6

p.F353L

c.1057T>C

1 paper

NM_005911.6

p.K351N

c.1053G>C

1 paper

NM_005911.6

p.K351N

c.1053G>T

1 paper

NM_005911.6

p.K350M

c.1049A>T

8 papers

NM_005911.6

p.E344A

c.1031A>C