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

2 papers

NM_000429.3

p.K351*

c.1051A>T

Surrounding Variants

3 papers

NM_000429.3

p.V348delFs

c.1043_1044delCA

1 paper

NM_000429.3

p.V348fs

c.1042_1043fs

1 paper

NM_000429.3

p.D354N

c.1060G>A

1 paper

NM_000429.3

p.D354G

c.1061A>G

5 papers

NM_000429.3

p.L355R

c.1064T>G

9 papers

NM_000429.3

p.R356W

c.1066C>T

5 papers

NM_000429.3

p.R356L

c.1067G>T

10 papers

NM_000429.3

p.R356P

c.1067G>C

7 papers

NM_000429.3

p.R356Q

c.1067G>A

3 papers

NM_000429.3

p.R356R

c.1068G>A

1 paper

NM_000429.3

p.L345insFs

c.1033_1034insG

17 papers

NM_000429.3

p.P357L

c.1070C>T