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

21 papers

NM_000429.3

p.A259V

c.776C>T

Surrounding Variants

1 paper

NM_000429.3

p.A259G

c.776C>G

5 papers

NM_000429.3

p.D258G

c.773A>G

2 papers

NM_000429.3

p.D258H

c.772G>C

1 paper

NM_000429.3

p.G257V

c.770G>T

1 paper

NM_000429.3

p.G257E

c.770G>A

6 papers

NM_000429.3

p.G257R

c.769G>C

8 papers

NM_000429.3

p.G257R

c.769G>A

1 paper

NM_000429.3

p.Q256_G257Splc

c.769-1G>A

1 paper

NM_000429.3

p.G263G

c.789C>T

15 papers

NM_000429.3

p.R264C

c.790C>T

2 papers

NM_000429.3

p.R264L

c.791G>T

67 papers

NM_000429.3

p.R264H

c.791G>A