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.E57K

c.169G>A

Surrounding Variants

1 paper

NM_005911.6

p.A55D

c.164C>A

1 paper

NM_005911.6

p.K53R

c.158A>G

1 paper

NM_005911.6

p.P50S

c.148C>T

2 papers

NM_005911.6

p.L42P

c.125T>C

1 paper

NM_005911.6

p.L42F

c.124C>T

1 paper

NM_005911.6

p.D39H

c.115G>C

2 papers

NM_005911.6

p.S38N

c.113G>A

1 paper

NM_005911.6

p.E57Splc

c.170-2A>G

1 paper

NM_005911.6

p.M64L

c.190A>T

1 paper

NM_005911.6

p.G69R

c.205G>A

1 paper

NM_005911.6

p.S73F

c.218C>T

1 paper

NM_005911.6

p.K81Q

c.241A>C