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.I203del1

c.607_608delGAT

Surrounding Variants

2 papers

NM_000429.3

p.V204I

c.610G>A

1 paper

NM_000429.3

p.I203I

c.609C>T

1 paper

NM_000429.3

p.I203N

c.608T>A

3 papers

NM_000429.3

p.Q208P

c.623A>C

5 papers

NM_000429.3

p.R199H

c.596G>A

11 papers

NM_000429.3

p.R199C

c.595C>T

1 paper

NM_000429.3

p.D191_V198ins2

c.572_592dup21

3 papers

NM_000429.3

p.P197delFs

c.589delG

1 paper

NM_000429.3

p.N210N

c.630C>T

2 papers

NM_000429.3

p.P197fs

c.589_590fs

1 paper

NM_000429.3

p.P197S

c.589C>T

1 paper

NM_000429.3

p.P197A

c.589C>G