Varaico: Literature-Extracted Genetic Variants

MAT1A

193 papers

RefSeq Summary

This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi a...

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 1A

HGNC Alias Symbols

SAMS; MATA1; SAMS1; MAT-I/III

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000429.3

p.G309R

c.925G>A

Surrounding Variants

1 paper

NM_000429.3

p.G309R

c.925G>C

1 paper

NM_000429.3

p.G309V

c.926G>T

1 paper

NM_000429.3

p.A308P

c.922G>C

2 papers

NM_000429.3

p.R312W

c.934C>T

1 paper

NM_000429.3

p.R312Q

c.935G>A

12 papers

NM_000429.3

p.L305P

c.914T>C

1 paper

NM_000429.3

p.R313K

c.938G>A

1 paper

NM_000429.3

p.L315F

c.943C>T

1 paper

NM_000429.3

p.A302T

c.904G>A

1 paper

NM_000429.3

p.R299R

c.897C>G

1 paper

NM_000429.3

p.R299P

c.896G>C

8 papers

NM_000429.3

p.R299H

c.896G>A