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

10 papers

NM_000429.3

p.A55D

c.164C>A

Surrounding Variants

1 paper

NM_000429.3

p.A55V

c.164C>T

1 paper

NM_000429.3

p.A55T

c.163G>A

3 papers

NM_000429.3

p.E57K

c.169G>A

2 papers

NM_000429.3

p.E57Splc

c.169+1G>A

1 paper

NM_000429.3

p.P50L

c.149C>T

1 paper

NM_000429.3

p.Q48K

c.142C>A

7 papers

NM_000429.3

p.L42P

c.125T>C

1 paper

NM_000429.3

p.D39N

c.115G>A

8 papers

NM_000429.3

p.S38N

c.113G>A

3 papers

NM_000429.3

p.I37T

c.110T>C

1 paper

NM_000429.3

p.C34S

c.101G>C

2 papers

NM_000429.3

p.C34S

c.100T>A