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.K61Q

c.181A>C

Surrounding Variants

1 paper

NM_000429.3

p.C60W

c.180C>G

1 paper

NM_000429.3

p.K61K

c.183G>A

1 paper

NM_000429.3

p.C60Y

c.179G>A

1 paper

NM_000429.3

p.C60R

c.178T>C

1 paper

NM_000429.3

p.T62T

c.186C>A

5 papers

NM_000429.3

p.G63V

c.188G>T

4 papers

NM_000429.3

p.M64K

c.191T>A

4 papers

NM_000429.3

p.E57K

c.169G>A

1 paper

NM_000429.3

p.V65G

c.194T>G

2 papers

NM_000429.3

p.E57Splc

c.170-2A>G

1 paper

NM_000429.3

p.L66L

c.198G>A

7 papers

NM_000429.3

p.G69S

c.205G>A