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

4 papers

NM_005911.6

p.S180insFs

c.539_540insTG

Surrounding Variants

1 paper

NM_005911.6

p.E166G

c.497A>G

1 paper

NM_005911.6

p.K163N

c.489A>C

1 paper

NM_005911.6

p.K163N

c.489A>T

1 paper

NM_005911.6

p.E145K

c.433G>A

1 paper

NM_005911.6

p.Q135_G136Splc

c.406-15C>T

1 paper

NM_005911.6

p.D129H

c.385G>C

2 papers

NM_005911.6

p.S206F

c.617C>T

3 papers

NM_005911.6

p.S114A

c.340T>G

1 paper

NM_005911.6

p.D220H

c.658G>C

2 papers

NM_005911.6

p.A233V

c.698C>T

1 paper

NM_005911.6

p.E238D

c.714G>C

1 paper

NM_005911.6

p.E238D

c.714G>T