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.R177R

c.529C>A

Surrounding Variants

11 papers

NM_000429.3

p.R177W

c.529C>T

1 paper

NM_000429.3

p.R177Q

c.530G>A

2 papers

NM_000429.3

p.L176Q

c.527T>A

1 paper

NM_000429.3

p.P178L

c.533C>T

1 paper

NM_000429.3

p.S180fs

c.538_539fs

3 papers

NM_000429.3

p.S180insFs

c.538_539insTG

10 papers

NM_000429.3

p.S180insFs

c.539_540insTG

1 paper

NM_000429.3

p.S180fs

c.538_539fs

1 paper

NM_000429.3

p.K181*

c.541A>T

1 paper

NM_000429.3

p.S180insFs

c.540dupT

2 papers

NM_000429.3

p.Q183E

c.547C>G

1 paper

NM_000429.3

p.Q183K

c.547C>A