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.A281V

c.842C>T

Surrounding Variants

2 papers

NM_000429.3

p.G280V

c.839G>T

4 papers

NM_000429.3

p.G280R

c.838G>C

5 papers

NM_000429.3

p.G280R

c.838G>A

5 papers

NM_000429.3

p.G279V

c.836G>T

1 paper

NM_000429.3

p.G279D

c.836G>A

1 paper

NM_000429.3

p.G278V

c.833G>T

1 paper

NM_000429.3

p.K285N

c.855G>T

1 paper

NM_000429.3

p.K285N

c.855G>C

1 paper

NM_000429.3

p.H277Y

c.829C>T

2 papers

NM_000429.3

p.D286N

c.856G>A

9 papers

NM_000429.3

p.A276insFs

c.827_828insG

1 paper

NM_000429.3

p.A276fs

c.826_827fs