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.V241fs

c.721_722fs

Surrounding Variants

1 paper

NM_000429.3

p.V241A

c.722T>C

1 paper

NM_000429.3

p.H243_L244insFs

c.729_730insTT

1 paper

NM_000429.3

p.Q245fs

c.733_734fs

4 papers

NM_000429.3

p.E238K

c.712G>A

1 paper

NM_000429.3

p.Q245P

c.734A>C

2 papers

NM_000429.3

p.Q245delFs

c.734_735delCT

1 paper

NM_000429.3

p.S247G

c.739A>G

4 papers

NM_000429.3

p.S247R

c.739A>C

1 paper

NM_000429.3

p.S247I

c.740G>T

1 paper

NM_000429.3

p.S247N

c.740G>A

4 papers

NM_000429.3

p.S247R

c.741T>G

4 papers

NM_000429.3

p.S247R

c.741T>A