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.I322T

c.965T>C

Surrounding Variants

10 papers

NM_000429.3

p.I322M

c.966T>G

6 papers

NM_000429.3

p.I322V

c.964A>G

1 paper

NM_000429.3

p.A321V

c.962C>T

1 paper

NM_000429.3

p.S319Y

c.956C>A

1 paper

NM_000429.3

p.V318D

c.953T>A

2 papers

NM_000429.3

p.P327P

c.981G>A

1 paper

NM_000429.3

p.Q317_V318Splc

c.952-19C>T

1 paper

NM_000429.3

p.Y335H

c.1003T>C

2 papers

NM_000429.3

p.Y335Y

c.1005C>T

1 paper

NM_000429.3

p.Y335*

c.1005C>G

1 paper

NM_000429.3

p.Y335*

c.1005C>A

5 papers

NM_000429.3

p.G336R

c.1006G>C