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.N6D

c.16A>G

Surrounding Variants

1 paper

NM_005911.6

p.Q4R

c.11A>G

1 paper

NM_005911.6

p.N2D

c.4A>G

1 paper

NM_005911.6

p.M1delins

c.3delinsTTTTAGATCCATATTTTAG

1 paper

NM_005911.6

p.M1V

c.1A>G

2 papers

NM_005911.6

p.A11V

c.32C>T

2 papers

NM_005911.6

p.G16D

c.47G>A

2 papers

NM_005911.6

p.S22L

c.65C>T

1 paper

NM_005911.6

p.E27G

c.80A>G

1 paper

NM_005911.6

p.H29Q

c.87C>G

2 papers

NM_005911.6

p.S38N

c.113G>A

1 paper

NM_005911.6

p.D39H

c.115G>C

1 paper

NM_005911.6

p.L42F

c.124C>T