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

1–12 of 288 variants

67 papers

NM_000429.3

p.R264H

c.791G>A

21 papers

NM_000429.3

p.A259V

c.776C>T

17 papers

NM_000429.3

p.P357L

c.1070C>T

15 papers

NM_000429.3

p.R264C

c.790C>T

14 papers

NM_000429.3

p.R299C

c.895C>T

13 papers

NM_000429.3

p.R292C

c.874C>T

12 papers

NM_000429.3

p.L305P

c.914T>C

11 papers

NM_000429.3

p.Y92H

c.274T>C

11 papers

NM_000429.3

p.R177W

c.529C>T

11 papers

NM_000429.3

p.R199C

c.595C>T

10 papers

NM_000429.3

p.A55D

c.164C>A

10 papers

NM_000429.3

p.S180insFs

c.539_540insTG